nsv3379187
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Audano et al. 2019
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: 204 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 204 SVs from 44 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3379187 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 177,096,953 | 177,096,953 | ||
nsv3379187 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 176,523,954 | 176,523,954 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14712177 | insertion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
nssv14712314 | insertion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
nssv14720715 | insertion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
nssv14722138 | insertion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
nssv14726630 | insertion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
nssv14727027 | insertion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
nssv14729252 | insertion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
nssv14730973 | insertion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
nssv14731762 | insertion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14712177 | Submitted genomic | NC_000005.10:g.177 096953_177096954in s99 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,953 | 177,096,953 | ||
nssv14712314 | Submitted genomic | NC_000005.10:g.177 096953_177096954in s99 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,953 | 177,096,953 | ||
nssv14720715 | Submitted genomic | NC_000005.10:g.177 096953_177096954in s99 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,953 | 177,096,953 | ||
nssv14722138 | Submitted genomic | NC_000005.10:g.177 096953_177096954in s99 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,953 | 177,096,953 | ||
nssv14726630 | Submitted genomic | NC_000005.10:g.177 096953_177096954in s99 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,953 | 177,096,953 | ||
nssv14727027 | Submitted genomic | NC_000005.10:g.177 096953_177096954in s99 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,953 | 177,096,953 | ||
nssv14729252 | Submitted genomic | NC_000005.10:g.177 096953_177096954in s99 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,953 | 177,096,953 | ||
nssv14730973 | Submitted genomic | NC_000005.10:g.177 096953_177096954in s99 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,953 | 177,096,953 | ||
nssv14731762 | Submitted genomic | NC_000005.10:g.177 096953_177096954in s99 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,953 | 177,096,953 | ||
nssv14712177 | Remapped | Perfect | NC_000005.9:g.1765 23954_176523955ins 99NC_000005.9:g.17 6523954_176523955i ns99 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,954 | 176,523,954 |
nssv14712314 | Remapped | Perfect | NC_000005.9:g.1765 23954_176523955ins 99NC_000005.9:g.17 6523954_176523955i ns99 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,954 | 176,523,954 |
nssv14720715 | Remapped | Perfect | NC_000005.9:g.1765 23954_176523955ins 99NC_000005.9:g.17 6523954_176523955i ns99 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,954 | 176,523,954 |
nssv14722138 | Remapped | Perfect | NC_000005.9:g.1765 23954_176523955ins 99NC_000005.9:g.17 6523954_176523955i ns99 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,954 | 176,523,954 |
nssv14726630 | Remapped | Perfect | NC_000005.9:g.1765 23954_176523955ins 99NC_000005.9:g.17 6523954_176523955i ns99 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,954 | 176,523,954 |
nssv14727027 | Remapped | Perfect | NC_000005.9:g.1765 23954_176523955ins 99NC_000005.9:g.17 6523954_176523955i ns99 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,954 | 176,523,954 |
nssv14729252 | Remapped | Perfect | NC_000005.9:g.1765 23954_176523955ins 99NC_000005.9:g.17 6523954_176523955i ns99 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,954 | 176,523,954 |
nssv14730973 | Remapped | Perfect | NC_000005.9:g.1765 23954_176523955ins 99NC_000005.9:g.17 6523954_176523955i ns99 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,954 | 176,523,954 |
nssv14731762 | Remapped | Perfect | NC_000005.9:g.1765 23954_176523955ins 99NC_000005.9:g.17 6523954_176523955i ns99 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,954 | 176,523,954 |