nsv499246
- Organism: Homo sapiens
- Study:nstd47 (Kidd et al. 2010b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:614
- Publication(s):Kidd et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 198 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 15 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv499246 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 23,972,684 | 23,973,297 |
nsv499246 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 24,441,893 | 24,442,506 |
nsv499246 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 23,511,733 | 23,512,346 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv586238 | copy number gain | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv586238 | Remapped | Perfect | NC_000014.9:g.2397 2684_23973297dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 23,972,684 | 23,973,297 |
nssv586238 | Remapped | Perfect | NC_000014.8:g.2444 1893_24442506dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 24,441,893 | 24,442,506 |
nssv586238 | Submitted genomic | NC_000014.7:g.2351 1733_23512346dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 23,511,733 | 23,512,346 |