nsv4372918
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:35
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,072
- Publication(s):Zarrei et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 790 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 790 SVs from 91 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4372918 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nsv4372918 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15611794 | copy number loss | 1-0112-003 | SNP array | Genotyping | 23 |
nssv15611960 | copy number gain | 1-0638-002 | SNP array | Genotyping | 20 |
nssv15612831 | copy number gain | 1-0675-001 | SNP array | Genotyping | 27 |
nssv15613157 | copy number gain | 1-0677-002 | SNP array | Genotyping | 20 |
nssv15614089 | copy number gain | 1-0731-003 | SNP array | Genotyping | 21 |
nssv15618348 | copy number gain | 1-0866-003 | SNP array | Genotyping | 14 |
nssv15627736 | copy number gain | 1-0534-003 | SNP array | Genotyping | 16 |
nssv15628334 | copy number gain | 1-0514-001 | SNP array | Genotyping | 17 |
nssv15630526 | copy number gain | 1-0576-001 | SNP array | Genotyping | 19 |
nssv15631479 | copy number gain | 1-0628-003 | SNP array | Genotyping | 22 |
nssv15637488 | copy number gain | 14-0044-004 | SNP array | Genotyping | 24 |
nssv15641956 | copy number gain | 15-1126-004 | SNP array | Genotyping | 21 |
nssv15645009 | copy number gain | 2-0272-002 | SNP array | Genotyping | 19 |
nssv15645412 | copy number loss | 2-0171-004 | SNP array | Genotyping | 20 |
nssv15645511 | copy number gain | 2-0299-003 | SNP array | Genotyping | 23 |
nssv15654068 | copy number gain | 2-1690-002 | SNP array | Genotyping | 24 |
nssv15659321 | copy number gain | 3-0647-000 | SNP array | Genotyping | 13 |
nssv15662553 | copy number gain | 5-0074-001 | SNP array | Genotyping | 23 |
nssv15663447 | copy number gain | 5-0131-001 | SNP array | Genotyping | 25 |
nssv15663983 | copy number gain | 5-0144-001 | SNP array | Genotyping | 23 |
nssv15670588 | copy number gain | 7-0196-003 | SNP array | Genotyping | 21 |
nssv15673411 | copy number gain | 9-0030-002 | SNP array | Genotyping | 24 |
nssv15676679 | copy number loss | 173373 | SNP array | Genotyping | 13 |
nssv15678754 | copy number gain | 242268S | SNP array | Genotyping | 22 |
nssv15679105 | copy number gain | 242406S | SNP array | Genotyping | 25 |
nssv15679791 | copy number gain | 207273 | SNP array | Genotyping | 16 |
nssv15681139 | copy number loss | 193294 | SNP array | Genotyping | 26 |
nssv15681392 | copy number loss | OCD103-1584 | SNP array | Genotyping | 21 |
nssv15686046 | copy number gain | OCD176-8961183 | SNP array | Genotyping | 20 |
nssv15690929 | copy number loss | OCD172-GW-376_1811 | SNP array | Genotyping | 22 |
nssv15693145 | copy number loss | OCD86-896851 | SNP array | Genotyping | 29 |
nssv15696837 | copy number gain | 218093 | SNP array | Genotyping | 20 |
nssv15697210 | copy number loss | 150332 | SNP array | Genotyping | 17 |
nssv15697227 | copy number loss | 155931 | SNP array | Genotyping | 10 |
nssv15701663 | copy number gain | 225368 | SNP array | Genotyping | 31 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15611794 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15611960 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15612831 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15613157 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15614089 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15618348 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15627736 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15628334 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15630526 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15631479 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15637488 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15641956 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15645009 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15645412 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15645511 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15654068 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15659321 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15662553 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15663447 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15663983 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15670588 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15673411 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15676679 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15678754 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15679105 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15679791 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15681139 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15681392 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15686046 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15690929 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15693145 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15696837 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15697210 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15697227 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15701663 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1893972 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,939,721 |
nssv15611794 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15611960 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15612831 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15613157 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15614089 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15618348 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15627736 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15628334 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15630526 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15631479 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15637488 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15641956 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15645009 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15645412 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15645511 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15654068 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15659321 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15662553 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15663447 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15663983 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15670588 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15673411 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15676679 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15678754 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15679105 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15679791 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15681139 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15681392 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15686046 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15690929 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15693145 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15696837 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15697210 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15697227 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 | ||
nssv15701663 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18961268 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,961,268 |