nsv4373540
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:34
- Validation:Not tested
- Clinical Assertions: No
- Region Size:122,276
- 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: 1528 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1495 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4373540 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nsv4373540 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15625319 | copy number loss | 1-0323-004 | SNP array | Genotyping | 24 |
| nssv15625928 | copy number loss | 1-0432-004 | SNP array | Genotyping | 23 |
| nssv15626395 | copy number loss | 1-0432-001 | SNP array | Genotyping | 25 |
| nssv15627932 | copy number loss | 1-0455-004 | SNP array | Genotyping | 29 |
| nssv15629511 | copy number loss | 1-0565-001 | SNP array | Genotyping | 19 |
| nssv15637432 | copy number loss | 13-0095-002 | SNP array | Genotyping | 22 |
| nssv15668202 | copy number loss | 7-0180-003 | SNP array | Genotyping | 21 |
| nssv15676052 | copy number loss | 160689 | SNP array | Genotyping | 17 |
| nssv15682403 | copy number loss | OCD110-S_1653 | SNP array | Genotyping | 26 |
| nssv15682780 | copy number loss | OCD1153-S_HAM483 | SNP array | Genotyping | 27 |
| nssv15683411 | copy number loss | OCD122-S_1638 | SNP array | Genotyping | 18 |
| nssv15683473 | copy number loss | OCD124-B_188609 | SNP array | Genotyping | 22 |
| nssv15683742 | copy number loss | OCD122-B_1637 | SNP array | Genotyping | 19 |
| nssv15684802 | copy number loss | OCD167-8961211 | SNP array | Genotyping | 20 |
| nssv15684839 | copy number loss | OCD167-8961213 | SNP array | Genotyping | 21 |
| nssv15685217 | copy number loss | OCD1144-8961003 | SNP array | Genotyping | 20 |
| nssv15685567 | copy number loss | OCD129-8961041 | SNP array | Genotyping | 22 |
| nssv15686184 | copy number loss | OCD20-S_896381 | SNP array | Genotyping | 23 |
| nssv15690409 | copy number loss | OCD143-AH-1298(189711NF) | SNP array | Genotyping | 26 |
| nssv15690943 | copy number loss | OCD178-LS-1807 | SNP array | Genotyping | 15 |
| nssv15691119 | copy number loss | OCD26-896511 | SNP array | Genotyping | 28 |
| nssv15691699 | copy number loss | OCD75-SB-1213 | SNP array | Genotyping | 18 |
| nssv15691794 | copy number loss | OCD8-S_896143 | SNP array | Genotyping | 27 |
| nssv15691818 | copy number loss | OCD80-896741 | SNP array | Genotyping | 33 |
| nssv15692513 | copy number loss | OCD63-JS-1229 | SNP array | Genotyping | 18 |
| nssv15692977 | copy number loss | OCD8-S_896141 | SNP array | Genotyping | 23 |
| nssv15695193 | copy number loss | 155007 | SNP array | Genotyping | 18 |
| nssv15696242 | copy number loss | 157170 | SNP array | Genotyping | 15 |
| nssv15696256 | copy number loss | 156894 | SNP array | Genotyping | 11 |
| nssv15696270 | copy number loss | 157166 | SNP array | Genotyping | 19 |
| nssv15697317 | copy number loss | 156898 | SNP array | Genotyping | 17 |
| nssv15699426 | copy number loss | 102593 | SNP array | Genotyping | 19 |
| nssv15701891 | copy number loss | 168209 | SNP array | Genotyping | 19 |
| nssv15702205 | copy number loss | 180695 | SNP array | Genotyping | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15625319 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15625928 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15626395 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15627932 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15629511 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15637432 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15668202 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15676052 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15682403 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15682780 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15683411 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15683473 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15683742 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15684802 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15684839 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15685217 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15685567 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15686184 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15690409 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15690943 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15691119 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15691699 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15691794 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15691818 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15692513 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15692977 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15695193 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15696242 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15696256 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15696270 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15697317 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15699426 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15701891 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15702205 | Remapped | Perfect | NC_000019.10:g.(?_ 20415624)_(2053789 9_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,415,624 | 20,537,899 |
| nssv15625319 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15625928 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15626395 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15627932 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15629511 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15637432 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15668202 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15676052 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15682403 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15682780 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15683411 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15683473 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15683742 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15684802 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15684839 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15685217 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15685567 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15686184 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15690409 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15690943 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15691119 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15691699 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15691794 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15691818 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15692513 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15692977 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15695193 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15696242 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15696256 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15696270 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15697317 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15699426 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15701891 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 | ||
| nssv15702205 | Submitted genomic | NC_000019.9:g.(?_2 0598430)_(20720705 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,598,430 | 20,720,705 |