nsv3908640
- 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:501,175
- Description:GRCh38/hg38 1p21.1(chr1:104884441-105385615)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: 1763 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1763 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 543 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908640 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 104,884,441 | 105,385,615 |
| nsv3908640 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 105,427,063 | 105,928,237 |
| nsv3908640 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 105,228,586 | 105,729,760 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133649 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000135627.4, VCV000146322.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133649 | Submitted genomic | NC_000001.11:g.(?_ 104884441)_(105385 615_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 104,884,441 | 105,385,615 |
| nssv15133649 | Submitted genomic | NC_000001.10:g.(?_ 105427063)_(105928 237_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 105,427,063 | 105,928,237 |
| nssv15133649 | Submitted genomic | NC_000001.9:g.(?_1 05228586)_(1057297 60_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,228,586 | 105,729,760 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133649 | GRCh37: NC_000001.10:g.(?_105427063)_(105928237_?)del, GRCh38: NC_000001.11:g.(?_104884441)_(105385615_?)del, NCBI36: NC_000001.9:g.(?_105228586)_(105729760_?)del | copy number loss | paternal | See cases | Likely benign | ClinVar | RCV000135627.4, VCV000146322.2 | 1 |