nsv431546
- Organism: Homo sapiens
- Study:nstd12 (Marshall et al. 2008)
- Variant Type:copy number variation
- Method Type:Merging, SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:334,001
- Publication(s):Marshall et al. 2008
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: 1068 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1068 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 5 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 |
---|---|---|---|---|---|---|---|---|---|
nsv431546 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 116,193,194 | 116,527,194 |
nsv431546 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 116,950,770 | 117,284,770 |
nsv431546 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 116,667,000 | 117,001,000 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv563774 | copy number gain | NA049.000S | Merging, SNP array | Merging, SNP genotyping analysis | 10 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv563774 | Remapped | Perfect | NC_000002.12:g.(?_ 116193194)_(116527 194_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 116,193,194 | 116,527,194 |
nssv563774 | Remapped | Perfect | NC_000002.11:g.(?_ 116950770)_(117284 770_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 116,950,770 | 117,284,770 |
nssv563774 | Submitted genomic | NC_000002.9:g.(?_1 16667000)_(1170010 00_?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 116,667,000 | 117,001,000 |