nsv1004156
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:218,020
- Publication(s):Coe et al. 2014
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: 845 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 845 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1004156 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 36,123,960 | 36,341,979 |
nsv1004156 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315908.1 | Chr2|NW_00 3315908.1 | 27,379 | 143,390 |
nsv1004156 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 36,351,103 | 36,569,122 |
nsv1004156 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003315908.1 | Chr2|NW_00 3315908.1 | 27,379 | 143,390 |
nsv1004156 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 36,204,607 | 36,422,626 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv3581470 | copy number loss | SNP array | Probe signal intensity |
nssv3725964 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3581470 | Remapped | Pass | NW_003315908.1:g.( ?_27379)_(143390_? )del | GRCh38.p12 | Second Pass | NW_003315908.1 | Chr2|NW_00 3315908.1 | 27,379 | 143,390 |
nssv3725964 | Remapped | Pass | NW_003315908.1:g.( ?_27379)_(143390_? )dup | GRCh38.p12 | Second Pass | NW_003315908.1 | Chr2|NW_00 3315908.1 | 27,379 | 143,390 |
nssv3581470 | Remapped | Perfect | NC_000002.12:g.(?_ 36123960)_(3634197 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 36,123,960 | 36,341,979 |
nssv3725964 | Remapped | Perfect | NC_000002.12:g.(?_ 36123960)_(3634197 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 36,123,960 | 36,341,979 |
nssv3581470 | Remapped | Pass | NW_003315908.1:g.( ?_27379)_(143390_? )del | GRCh37.p13 | Second Pass | NW_003315908.1 | Chr2|NW_00 3315908.1 | 27,379 | 143,390 |
nssv3725964 | Remapped | Pass | NW_003315908.1:g.( ?_27379)_(143390_? )dup | GRCh37.p13 | Second Pass | NW_003315908.1 | Chr2|NW_00 3315908.1 | 27,379 | 143,390 |
nssv3581470 | Remapped | Perfect | NC_000002.11:g.(?_ 36351103)_(3656912 2_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 36,351,103 | 36,569,122 |
nssv3725964 | Remapped | Perfect | NC_000002.11:g.(?_ 36351103)_(3656912 2_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 36,351,103 | 36,569,122 |
nssv3581470 | Submitted genomic | NC_000002.10:g.(?_ 36204607)_(3642262 6_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 36,204,607 | 36,422,626 | ||
nssv3725964 | Submitted genomic | NC_000002.10:g.(?_ 36204607)_(3642262 6_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 36,204,607 | 36,422,626 |