nsv3911624
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:13,102,441
- Description:inv(2)(p21p23.2) AND Endometrial carcinoma
- Publication(s):Lu et al. 2014, SGO Clinical Practice Endometrial Cancer Working Group et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 37172 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 37199 SVs from 132 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3911624 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 29,224,814 | 42,327,254 |
| nsv3911624 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 29,447,680 | 42,554,394 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15151637 | inversion | Multiple | Multiple | ENDOMETRIAL CANCER; Endometrial carcinoma; Endometrial carcinoma | Likely pathogenic | ClinVar | RCV000659263.1, VCV000547174.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151637 | Remapped | Good | NC_000002.12:g.292 24814_42327254inv | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 29,224,814 | 42,327,254 |
| nssv15151637 | Submitted genomic | NC_000002.11:g.294 47680_42554394inv | GRCh37 (hg19) | NC_000002.11 | Chr2 | 29,447,680 | 42,554,394 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15151637 | GRCh37: NC_000002.11:g.29447680_42554394inv | inversion | somatic | ENDOMETRIAL CANCER; Endometrial carcinoma; Endometrial carcinoma | Likely pathogenic | ClinVar | RCV000659263.1, VCV000547174.1 |