nsv1043084
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:26,302
- 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: 237 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 14 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1043084 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 93,028,903 | 93,055,204 |
nsv1043084 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 93,572,133 | 93,598,434 |
nsv1043084 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 91,373,137 | 91,399,438 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3471792 | copy number loss | 9879468 | Oligo aCGH | Probe signal intensity | 8 |
nssv3476142 | copy number loss | 9872346 | Oligo aCGH | Probe signal intensity | nssv3453836, nssv3465631 |
nssv3477776 | copy number gain | 9884024 | Oligo aCGH | Probe signal intensity | nssv3470638, nssv3454172 |
nssv3478306 | copy number loss | 9880363 | Oligo aCGH | Probe signal intensity | nssv3448036 |
nssv3480192 | copy number loss | 9871937 | Oligo aCGH | Probe signal intensity | 6 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3471792 | Remapped | Perfect | NC_000015.10:g.(?_ 93028903)_(9305520 4_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 93,028,903 | 93,055,204 |
nssv3476142 | Remapped | Perfect | NC_000015.10:g.(?_ 93028903)_(9305520 4_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 93,028,903 | 93,055,204 |
nssv3477776 | Remapped | Perfect | NC_000015.10:g.(?_ 93028903)_(9305520 4_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 93,028,903 | 93,055,204 |
nssv3478306 | Remapped | Perfect | NC_000015.10:g.(?_ 93028903)_(9305520 4_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 93,028,903 | 93,055,204 |
nssv3480192 | Remapped | Perfect | NC_000015.10:g.(?_ 93028903)_(9305520 4_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 93,028,903 | 93,055,204 |
nssv3471792 | Remapped | Perfect | NC_000015.9:g.(?_9 3572133)_(93598434 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 93,572,133 | 93,598,434 |
nssv3476142 | Remapped | Perfect | NC_000015.9:g.(?_9 3572133)_(93598434 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 93,572,133 | 93,598,434 |
nssv3477776 | Remapped | Perfect | NC_000015.9:g.(?_9 3572133)_(93598434 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 93,572,133 | 93,598,434 |
nssv3478306 | Remapped | Perfect | NC_000015.9:g.(?_9 3572133)_(93598434 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 93,572,133 | 93,598,434 |
nssv3480192 | Remapped | Perfect | NC_000015.9:g.(?_9 3572133)_(93598434 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 93,572,133 | 93,598,434 |
nssv3471792 | Submitted genomic | NC_000015.8:g.(?_9 1373137)_(91399438 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 91,373,137 | 91,399,438 | ||
nssv3476142 | Submitted genomic | NC_000015.8:g.(?_9 1373137)_(91399438 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 91,373,137 | 91,399,438 | ||
nssv3477776 | Submitted genomic | NC_000015.8:g.(?_9 1373137)_(91399438 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 91,373,137 | 91,399,438 | ||
nssv3478306 | Submitted genomic | NC_000015.8:g.(?_9 1373137)_(91399438 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 91,373,137 | 91,399,438 | ||
nssv3480192 | Submitted genomic | NC_000015.8:g.(?_9 1373137)_(91399438 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 91,373,137 | 91,399,438 |