nsv4378600
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35,092
- 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: 399 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 399 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4378600 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nsv4378600 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615615 | copy number gain | 1-0799-003 | SNP array | Genotyping | 19 |
| nssv15619157 | copy number gain | 1-0928-003 | SNP array | Genotyping | 10 |
| nssv15638506 | copy number gain | 14-0135-006 | SNP array | Genotyping | 23 |
| nssv15640007 | copy number gain | 14-0258-003 | SNP array | Genotyping | 14 |
| nssv15641635 | copy number gain | 14-0243-001 | SNP array | Genotyping | 23 |
| nssv15641675 | copy number gain | 14-0243-003 | SNP array | Genotyping | 27 |
| nssv15642311 | copy number gain | 14-0385-001 | SNP array | Genotyping | 23 |
| nssv15649102 | copy number gain | 2-1186-002 | SNP array | Genotyping | 16 |
| nssv15649382 | copy number gain | 2-1379-001 | SNP array | Genotyping | 18 |
| nssv15665050 | copy number gain | 14AG1601 | SNP array | Genotyping | 24 |
| nssv15666245 | copy number gain | 5-0105-003 | SNP array | Genotyping | 17 |
| nssv15667215 | copy number gain | 7-0151-003 | SNP array | Genotyping | 17 |
| nssv15683124 | copy number gain | 238143S | SNP array | Genotyping | 35 |
| nssv15693360 | copy number gain | OCD92-TW-1313 | SNP array | Genotyping | 14 |
| nssv15694554 | copy number gain | OCD98-1525 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615615 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15619157 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15638506 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15640007 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15641635 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15641675 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15642311 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15649102 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15649382 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15665050 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15666245 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15667215 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15683124 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15693360 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15694554 | Remapped | Perfect | NC_000006.12:g.(?_ 124114129)_(124149 220_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 124,114,129 | 124,149,220 |
| nssv15615615 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15619157 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15638506 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15640007 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15641635 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15641675 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15642311 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15649102 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15649382 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15665050 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15666245 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15667215 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15683124 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15693360 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 | ||
| nssv15694554 | Submitted genomic | NC_000006.11:g.(?_ 124435274)_(124470 365_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,435,274 | 124,470,365 |