nsv4371493
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:81,781
- 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: 915 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 393 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4371493 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 804,928 |
| nsv4371493 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,252,034 | 55,333,814 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15621412 | copy number loss | 1-1015-003 | SNP array | Genotyping | 22 |
| nssv15622544 | copy number loss | 1-0219-004 | SNP array | Genotyping | 20 |
| nssv15641846 | copy number loss | 14-0277-002 | SNP array | Genotyping | 19 |
| nssv15658036 | copy number gain | 3-0537-000 | SNP array | Genotyping | 20 |
| nssv15667844 | copy number loss | 7-0131-003 | SNP array | Genotyping | 31 |
| nssv15696436 | copy number loss | 200763 | SNP array | Genotyping | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15621412 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(804928_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 804,928 |
| nssv15622544 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(804928_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 804,928 |
| nssv15641846 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(804928_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 804,928 |
| nssv15658036 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(804928_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 804,928 |
| nssv15667844 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(804928_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 804,928 |
| nssv15696436 | Remapped | Perfect | NT_187693.1:g.(?_7 23148)_(804928_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 723,148 | 804,928 |
| nssv15621412 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55333814 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,333,814 | ||
| nssv15622544 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55333814 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,333,814 | ||
| nssv15641846 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55333814 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,333,814 | ||
| nssv15658036 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55333814 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,333,814 | ||
| nssv15667844 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55333814 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,333,814 | ||
| nssv15696436 | Submitted genomic | NC_000019.9:g.(?_5 5252034)_(55333814 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,252,034 | 55,333,814 |