nsv3901305
- 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:599,787
- Description:GRCh38/hg38 1q22(chr1:155834419-156434205)x3 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: 1548 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1553 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901305 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 155,834,419 | 156,434,205 |
| nsv3901305 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 155,804,210 | 156,403,997 |
| nsv3901305 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 154,070,834 | 154,670,621 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136408 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138885.4, VCV000149955.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136408 | Submitted genomic | NC_000001.11:g.(?_ 155834419)_(156434 205_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 155,834,419 | 156,434,205 |
| nssv15136408 | Submitted genomic | NC_000001.10:g.(?_ 155804210)_(156403 997_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 155,804,210 | 156,403,997 |
| nssv15136408 | Submitted genomic | NC_000001.9:g.(?_1 54070834)_(1546706 21_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 154,070,834 | 154,670,621 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136408 | GRCh37: NC_000001.10:g.(?_155804210)_(156403997_?)dup, GRCh38: NC_000001.11:g.(?_155834419)_(156434205_?)dup, NCBI36: NC_000001.9:g.(?_154070834)_(154670621_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000138885.4, VCV000149955.2 | 3 |