nsv4373345
- 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:159,988
- 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: 900 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1081 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1455 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4373345 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nsv4373345 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nsv4373345 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15663037 | copy number gain | 4-0043-003 | SNP array | Genotyping | 23 |
| nssv15671676 | copy number gain | 9-0003-003 | SNP array | Genotyping | 20 |
| nssv15673951 | copy number gain | 9-0025-003 | SNP array | Genotyping | 24 |
| nssv15675387 | copy number gain | 232809S | SNP array | Genotyping | 24 |
| nssv15686263 | copy number gain | OCD3-S_896082 | SNP array | Genotyping | 22 |
| nssv15686527 | copy number gain | OCD150-JC-1479 | SNP array | Genotyping | 18 |
| nssv15686976 | copy number gain | OCD38-S_0625-1127-1 | SNP array | Genotyping | 27 |
| nssv15688481 | copy number gain | OCD32-S_896583 | SNP array | Genotyping | 38 |
| nssv15692322 | copy number gain | OCD55-0625-9391-1 | SNP array | Genotyping | 23 |
| nssv15694379 | copy number gain | OCD87-896881 | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15663037 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15671676 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15673951 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15675387 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15686263 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15686527 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15686976 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15688481 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15692322 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15694379 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15663037 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142778 672_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nssv15671676 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142778 672_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nssv15673951 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142778 672_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nssv15675387 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142778 672_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nssv15686263 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142778 672_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nssv15686527 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142778 672_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nssv15686976 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142778 672_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nssv15688481 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142778 672_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nssv15692322 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142778 672_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nssv15694379 | Remapped | Pass | NC_000007.14:g.(?_ 142618685)_(142778 672_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,618,685 | 142,778,672 |
| nssv15663037 | Submitted genomic | NC_000007.13:g.(?_ 142266307)_(142486 482_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 | ||
| nssv15671676 | Submitted genomic | NC_000007.13:g.(?_ 142266307)_(142486 482_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 | ||
| nssv15673951 | Submitted genomic | NC_000007.13:g.(?_ 142266307)_(142486 482_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 | ||
| nssv15675387 | Submitted genomic | NC_000007.13:g.(?_ 142266307)_(142486 482_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 | ||
| nssv15686263 | Submitted genomic | NC_000007.13:g.(?_ 142266307)_(142486 482_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 | ||
| nssv15686527 | Submitted genomic | NC_000007.13:g.(?_ 142266307)_(142486 482_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 | ||
| nssv15686976 | Submitted genomic | NC_000007.13:g.(?_ 142266307)_(142486 482_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 | ||
| nssv15688481 | Submitted genomic | NC_000007.13:g.(?_ 142266307)_(142486 482_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 | ||
| nssv15692322 | Submitted genomic | NC_000007.13:g.(?_ 142266307)_(142486 482_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 | ||
| nssv15694379 | Submitted genomic | NC_000007.13:g.(?_ 142266307)_(142486 482_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,266,307 | 142,486,482 |