nsv3913233
- 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:966,560
- Description:NCBI36/hg18 2q37.1(chr2:232702663-233599457)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: 3107 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3107 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 827 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3913233 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 232,085,784 | 232,129,709 | 233,026,503 | 233,052,343 |
nsv3913233 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 232,950,494 | 232,994,419 | 233,891,213 | 233,917,053 |
nsv3913233 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 232,658,738 | 232,702,663 | 233,599,457 | 233,625,297 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15126635 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000452227.2, VCV000401938.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15126635 | Remapped | Perfect | NC_000002.12:g.(23 2085784_232129709) _(233026503_233052 343)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 232,085,784 | 232,129,709 | 233,026,503 | 233,052,343 |
nssv15126635 | Remapped | Perfect | NC_000002.11:g.(23 2950494_232994419) _(233891213_233917 053)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 232,950,494 | 232,994,419 | 233,891,213 | 233,917,053 |
nssv15126635 | Submitted genomic | NC_000002.10:g.(23 2658738_232702663) _(233599457_233625 297)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 232,658,738 | 232,702,663 | 233,599,457 | 233,625,297 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15126635 | NCBI36: NC_000002.10:g.(232658738_232702663)_(233599457_233625297)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000452227.2, VCV000401938.2 | 3 |