nsv3897866
- 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:3,586,494
- Description:GRCh38/hg38 2q33.1(chr2:198767347-202353840)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: 8237 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 8237 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 2130 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3897866 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 198,767,347 | 202,353,840 |
| nsv3897866 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 199,632,071 | 203,218,563 |
| nsv3897866 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 199,340,316 | 202,926,808 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146699 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136596.5, VCV000147402.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146699 | Submitted genomic | NC_000002.12:g.(?_ 198767347)_(202353 840_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 198,767,347 | 202,353,840 |
| nssv15146699 | Submitted genomic | NC_000002.11:g.(?_ 199632071)_(203218 563_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 199,632,071 | 203,218,563 |
| nssv15146699 | Submitted genomic | NC_000002.10:g.(?_ 199340316)_(202926 808_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 199,340,316 | 202,926,808 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146699 | GRCh37: NC_000002.11:g.(?_199632071)_(203218563_?)del, GRCh38: NC_000002.12:g.(?_198767347)_(202353840_?)del, NCBI36: NC_000002.10:g.(?_199340316)_(202926808_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136596.5, VCV000147402.2 | 1 |