nsv3907304
- 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:270,222
- Description:GRCh38/hg38 1p36.11-35.3(chr1:27429343-27699564)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: 808 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 810 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907304 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 27,429,343 | 27,699,564 |
| nsv3907304 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 27,755,852 | 28,026,075 |
| nsv3907304 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 27,628,439 | 27,898,662 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145923 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000139133.5, VCV000150249.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145923 | Submitted genomic | NC_000001.11:g.(?_ 27429343)_(2769956 4_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 27,429,343 | 27,699,564 |
| nssv15145923 | Submitted genomic | NC_000001.10:g.(?_ 27755852)_(2802607 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 27,755,852 | 28,026,075 |
| nssv15145923 | Submitted genomic | NC_000001.9:g.(?_2 7628439)_(27898662 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 27,628,439 | 27,898,662 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145923 | GRCh37: NC_000001.10:g.(?_27755852)_(28026075_?)del, GRCh38: NC_000001.11:g.(?_27429343)_(27699564_?)del, NCBI36: NC_000001.9:g.(?_27628439)_(27898662_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000139133.5, VCV000150249.2 | 1 |