nsv10096
- Organism: Homo sapiens
- Study:nstd4 (Perry et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:44,313
- Publication(s):Perry 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: 357 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv10096 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,136,979 | 97,181,291 |
nsv10096 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 97,802,716 | 97,847,028 |
nsv10096 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 97,224,590 | 97,268,902 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv28480 | copy number gain | NA18860 | Oligo aCGH | Probe signal intensity | 768 |
nssv29051 | copy number gain | NA18517 | Oligo aCGH | Probe signal intensity | 698 |
nssv27743 | copy number loss | NA19007 | Oligo aCGH | Probe signal intensity | 581 |
nssv28463 | copy number loss | NA10839 | Oligo aCGH | Probe signal intensity | 550 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv28480 | Remapped | Perfect | NC_000002.12:g.(97 136979_97147071)_( 97180279_97181291) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,136,979 | 97,147,071 | 97,180,279 | 97,181,291 |
nssv29051 | Remapped | Perfect | NC_000002.12:g.(97 147071_97148746)_( 97162500_97163531) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,147,071 | 97,148,746 | 97,162,500 | 97,163,531 |
nssv27743 | Remapped | Perfect | NC_000002.12:g.(97 150981_97151947)_( 97155502_97155932) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,150,981 | 97,151,947 | 97,155,502 | 97,155,932 |
nssv28463 | Remapped | Perfect | NC_000002.12:g.(97 151947_97154804)_( 97155932_97157270) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,151,947 | 97,154,804 | 97,155,932 | 97,157,270 |
nssv28480 | Remapped | Perfect | NC_000002.11:g.(97 802716_97812808)_( 97846016_97847028) dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 97,802,716 | 97,812,808 | 97,846,016 | 97,847,028 |
nssv29051 | Remapped | Perfect | NC_000002.11:g.(97 812808_97814483)_( 97828237_97829268) dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 97,812,808 | 97,814,483 | 97,828,237 | 97,829,268 |
nssv27743 | Remapped | Perfect | NC_000002.11:g.(97 816718_97817684)_( 97821239_97821669) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 97,816,718 | 97,817,684 | 97,821,239 | 97,821,669 |
nssv28463 | Remapped | Perfect | NC_000002.11:g.(97 817684_97820541)_( 97821669_97823007) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 97,817,684 | 97,820,541 | 97,821,669 | 97,823,007 |
nssv28480 | Submitted genomic | NC_000002.9:g.(972 24590_97234682)_(9 7267890_97268902)d up | NCBI35 (hg17) | NC_000002.9 | Chr2 | 97,224,590 | 97,234,682 | 97,267,890 | 97,268,902 | ||
nssv29051 | Submitted genomic | NC_000002.9:g.(972 34682_97236357)_(9 7250111_97251142)d up | NCBI35 (hg17) | NC_000002.9 | Chr2 | 97,234,682 | 97,236,357 | 97,250,111 | 97,251,142 | ||
nssv27743 | Submitted genomic | NC_000002.9:g.(972 38592_97239558)_(9 7243113_97243543)d el | NCBI35 (hg17) | NC_000002.9 | Chr2 | 97,238,592 | 97,239,558 | 97,243,113 | 97,243,543 | ||
nssv28463 | Submitted genomic | NC_000002.9:g.(972 39558_97242415)_(9 7243543_97244881)d el | NCBI35 (hg17) | NC_000002.9 | Chr2 | 97,239,558 | 97,242,415 | 97,243,543 | 97,244,881 |