nsv3901841
- 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:11,817,197
- Description:GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)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: 26774 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 26775 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 7004 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901841 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 59,760,856 | 71,578,052 |
| nsv3901841 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 60,226,528 | 72,043,735 |
| nsv3901841 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 59,999,116 | 71,816,323 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146618 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133710.4, VCV000144228.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146618 | Submitted genomic | NC_000001.11:g.(?_ 59760856)_(7157805 2_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 59,760,856 | 71,578,052 |
| nssv15146618 | Submitted genomic | NC_000001.10:g.(?_ 60226528)_(7204373 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,226,528 | 72,043,735 |
| nssv15146618 | Submitted genomic | NC_000001.9:g.(?_5 9999116)_(71816323 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 59,999,116 | 71,816,323 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146618 | GRCh37: NC_000001.10:g.(?_60226528)_(72043735_?)del, GRCh38: NC_000001.11:g.(?_59760856)_(71578052_?)del, NCBI36: NC_000001.9:g.(?_59999116)_(71816323_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133710.4, VCV000144228.2 | 1 |