nsv3921757
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:32,777,295
- Description:NCBI36/hg18 1q41-44(chr1:214401568-247249719) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 92709 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 92633 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 24525 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3921757 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 216,161,603 | 248,938,897 |
| nsv3921757 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 216,334,945 | 249,233,096 |
| nsv3921757 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 214,401,568 | 247,249,719 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15150597 | copy number gain | Multiple | Multiple | not provided | not provided | ClinVar | RCV000509527.1, VCV000441161.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150597 | Remapped | Good | NC_000001.11:g.(?_ 216161603)_(248938 897_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 216,161,603 | 248,938,897 |
| nssv15150597 | Remapped | Good | NC_000001.10:g.(?_ 216334945)_(249233 096_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 216,334,945 | 249,233,096 |
| nssv15150597 | Submitted genomic | NC_000001.9:g.(?_2 14401568)_(2472497 19_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 214,401,568 | 247,249,719 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15150597 | NCBI36: NC_000001.9:g.(?_214401568)_(247249719_?)dup | copy number gain | unknown | not provided | not provided | ClinVar | RCV000509527.1, VCV000441161.1 |