nsv169
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,128
- Publication(s):Tuzun et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 248 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 248 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 4 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 |
---|---|---|---|---|---|---|---|---|---|
nsv169 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 8,266,731 | 8,305,858 |
nsv169 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 8,331,615 | 8,370,742 |
nsv169 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 8,237,615 | 8,276,742 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv169 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 297 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv169 | Remapped | Perfect | NC_000019.10:g.(82 66731_?)_(?_830585 8)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 8,266,731 | 8,305,858 |
nssv169 | Remapped | Perfect | NC_000019.9:g.(833 1615_?)_(?_8370742 )del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 8,331,615 | 8,370,742 |
nssv169 | Submitted genomic | NC_000019.8:g.(823 7615_?)_(?_8276742 )del14171 | NCBI35 (hg17) | NC_000019.8 | Chr19 | 8,237,615 | 8,276,742 |