nsv3170363
- Organism: Homo sapiens
- Study:nstd153 (Szafranski et al. 2018)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, PCR, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:561,290
- Publication(s):Szafranski et al. 2018
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: 1967 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1967 SVs from 91 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3170363 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 86,253,582 | 86,814,871 |
nsv3170363 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 86,287,188 | 86,848,477 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv14252580 | copy number loss | 147.30 | Oligo aCGH, PCR, Sequencing | Manual observation, Probe signal intensity, Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14252580 | Remapped | Perfect | NC_000016.10:g.862 53582_86814871del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 86,253,582 | 86,814,871 |
nssv14252580 | Submitted genomic | NC_000016.9:g.8628 7188_86848477del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 86,287,188 | 86,848,477 |