nsv3896439
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:878,180
- Description:GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2627 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2635 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 485 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3896439 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 26,807,012 | 27,685,191 |
| nsv3896439 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 27,133,503 | 28,011,702 |
| nsv3896439 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 27,006,090 | 27,884,289 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146563 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053799.5, VCV000059928.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146563 | Submitted genomic | NC_000001.11:g.(?_ 26807012)_(2768519 1_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 26,807,012 | 27,685,191 |
| nssv15146563 | Submitted genomic | NC_000001.10:g.(?_ 27133503)_(2801170 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 27,133,503 | 28,011,702 |
| nssv15146563 | Submitted genomic | NC_000001.9:g.(?_2 7006090)_(27884289 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 27,006,090 | 27,884,289 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146563 | GRCh37: NC_000001.10:g.(?_27133503)_(28011702_?)del, GRCh38: NC_000001.11:g.(?_26807012)_(27685191_?)del, NCBI36: NC_000001.9:g.(?_27006090)_(27884289_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053799.5, VCV000059928.1 | 1 |