nsv3111369
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,692
- Publication(s):Lu et al. 2017
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: 249 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 249 SVs from 58 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3111369 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 99,487,248 | 99,488,939 |
nsv3111369 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 100,103,710 | 100,105,401 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14102331 | deletion | sample26 | Oligo aCGH | Probe signal intensity | 48 |
nssv14102418 | deletion | sample43 | Oligo aCGH | Probe signal intensity | 92 |
nssv14105225 | deletion | sample274 | Oligo aCGH | Probe signal intensity | 73 |
nssv14106333 | deletion | sample354 | Oligo aCGH | Probe signal intensity | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14102331 | Remapped | Perfect | NC_000002.12:g.(?_ 99487248)_(9948893 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 99,487,248 | 99,488,939 |
nssv14102418 | Remapped | Perfect | NC_000002.12:g.(?_ 99487248)_(9948893 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 99,487,248 | 99,488,939 |
nssv14105225 | Remapped | Perfect | NC_000002.12:g.(?_ 99487248)_(9948893 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 99,487,248 | 99,488,939 |
nssv14106333 | Remapped | Perfect | NC_000002.12:g.(?_ 99487248)_(9948893 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 99,487,248 | 99,488,939 |
nssv14102331 | Submitted genomic | NC_000002.11:g.(?_ 100103710)_(100105 401_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 100,103,710 | 100,105,401 | ||
nssv14102418 | Submitted genomic | NC_000002.11:g.(?_ 100103710)_(100105 401_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 100,103,710 | 100,105,401 | ||
nssv14105225 | Submitted genomic | NC_000002.11:g.(?_ 100103710)_(100105 401_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 100,103,710 | 100,105,401 | ||
nssv14106333 | Submitted genomic | NC_000002.11:g.(?_ 100103710)_(100105 401_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 100,103,710 | 100,105,401 |