nsv4368375
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:56,191
- 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: 1077 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 857 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 1077 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4368375 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nsv4368375 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nsv4368375 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15614358 | copy number loss | 1-0745-003 | SNP array | Genotyping | 21 |
| nssv15626183 | copy number loss | 1-0438-003 | SNP array | Genotyping | 23 |
| nssv15630621 | copy number loss | 1-0598-003 | SNP array | Genotyping | 17 |
| nssv15637554 | copy number loss | 14-0124-004 | SNP array | Genotyping | 20 |
| nssv15638512 | copy number loss | 14-0136-001 | SNP array | Genotyping | 22 |
| nssv15652934 | copy number loss | 2-1558-001 | SNP array | Genotyping | 24 |
| nssv15672082 | copy number loss | 9-0013-002 | SNP array | Genotyping | 20 |
| nssv15675909 | copy number loss | 215272 | SNP array | Genotyping | 25 |
| nssv15683287 | copy number loss | OCD1009-0625-6223-3 | SNP array | Genotyping | 19 |
| nssv15692046 | copy number loss | OCD60-0625-4081-3 | SNP array | Genotyping | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15614358 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(65437_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nssv15626183 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(65437_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nssv15630621 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(65437_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nssv15637554 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(65437_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nssv15638512 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(65437_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nssv15652934 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(65437_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nssv15672082 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(65437_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nssv15675909 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(65437_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nssv15683287 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(65437_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nssv15692046 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(65437_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 65,437 |
| nssv15614358 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234420 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nssv15626183 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234420 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nssv15630621 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234420 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nssv15637554 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234420 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nssv15638512 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234420 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nssv15652934 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234420 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nssv15672082 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234420 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nssv15675909 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234420 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nssv15683287 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234420 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nssv15692046 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234420 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,344,209 |
| nssv15614358 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7280989 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 | ||
| nssv15626183 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7280989 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 | ||
| nssv15630621 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7280989 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 | ||
| nssv15637554 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7280989 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 | ||
| nssv15638512 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7280989 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 | ||
| nssv15652934 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7280989 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 | ||
| nssv15672082 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7280989 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 | ||
| nssv15675909 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7280989 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 | ||
| nssv15683287 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7280989 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 | ||
| nssv15692046 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7280989 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,809,892 |