nsv876275
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:90,881
- Publication(s):Xu et al. 2011
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: 1830 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 975 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 990 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1826 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 805 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv876275 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,011,715 | 242,021,399 | 242,065,217 | 242,101,996 |
| nsv876275 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 54,826 | 54,826 | 145,706 | 145,706 |
| nsv876275 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 55,828 | 55,828 | 146,066 | 146,066 |
| nsv876275 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 242,953,866 | 242,963,550 | 243,007,368 | 243,044,147 |
| nsv876275 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 242,602,539 | 242,612,223 | 242,656,041 | 242,692,820 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1565386 | copy number loss | IS30409 | SNP array | SNP genotyping analysis | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1565386 | Remapped | Good | NT_187647.1:g.(548 26_54826)_(145706_ 145706)del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 54,826 | 54,826 | 145,706 | 145,706 |
| nssv1565386 | Remapped | Good | NT_187523.1:g.(558 28_55828)_(146066_ 146066)del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 55,828 | 55,828 | 146,066 | 146,066 |
| nssv1565386 | Remapped | Perfect | NC_000002.12:g.(24 2011715_242021399) _(242065217_242101 996)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,011,715 | 242,021,399 | 242,065,217 | 242,101,996 |
| nssv1565386 | Remapped | Perfect | NC_000002.11:g.(24 2953866_242963550) _(243007368_243044 147)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 242,953,866 | 242,963,550 | 243,007,368 | 243,044,147 |
| nssv1565386 | Submitted genomic | NC_000002.10:g.(24 2602539_242612223) _(242656041_242692 820)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 242,602,539 | 242,612,223 | 242,656,041 | 242,692,820 |