nsv6635745
- Organism: Homo sapiens
- Study:nstd227 (Kikas et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:236,682
- Publication(s):Kikas et al. 2023
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: 3337 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 1281 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1279 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 3333 SVs from 108 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6635745 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,869,928 | - | 242,106,609 |
| nsv6635745 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | - | 1 | 150,679 |
| nsv6635745 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | - | 1 | 150,319 |
| nsv6635745 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,812,080 | - | 243,048,760 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18328023 | deletion | SNP array | Probe signal intensity |
| nssv18328024 | deletion | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18328023 | Remapped | Pass | NT_187647.1:g.(?_1 )_(?_150319)del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | - | 1 | 150,319 |
| nssv18328024 | Remapped | Pass | NT_187647.1:g.(?_1 )_(?_150319)del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | - | 1 | 150,319 |
| nssv18328023 | Remapped | Pass | NT_187523.1:g.(?_1 )_(?_150679)del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | - | 1 | 150,679 |
| nssv18328024 | Remapped | Pass | NT_187523.1:g.(?_1 )_(?_150679)del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | - | 1 | 150,679 |
| nssv18328023 | Remapped | Perfect | NC_000002.12:g.(24 1869928_?)_(?_2421 06609)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,869,928 | - | 242,106,609 |
| nssv18328024 | Remapped | Perfect | NC_000002.12:g.(24 1869928_?)_(?_2421 06609)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,869,928 | - | 242,106,609 |
| nssv18328023 | Submitted genomic | NC_000002.11:g.(24 2812080_?)_(?_2430 48760)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,812,080 | - | 243,048,760 | ||
| nssv18328024 | Submitted genomic | NC_000002.11:g.(24 2812080_?)_(?_2430 48760)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,812,080 | - | 243,048,760 |