nsv3400437
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:326
- Description:Absence of a Alu insertion that is present in the reference
- 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: 483 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 483 SVs from 47 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3400437 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nsv3400437 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14712705 | alu deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
nssv14715055 | alu deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
nssv14717066 | alu deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
nssv14718494 | alu deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
nssv14719667 | alu deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
nssv14720427 | alu deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
nssv14722134 | alu deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
nssv14724739 | alu deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
nssv14728523 | alu deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
nssv14729014 | alu deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
nssv14731287 | alu deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
nssv14732031 | alu deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14712705 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14715055 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14717066 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14718494 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14719667 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14720427 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14722134 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14724739 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14728523 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14729014 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14731287 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14732031 | Submitted genomic | NC_000023.11:g.139 302736_139303061de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 139,302,736 | 139,303,061 | ||
nssv14712705 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14715055 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14717066 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14718494 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14719667 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14720427 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14722134 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14724739 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14728523 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14729014 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14731287 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |
nssv14732031 | Remapped | Perfect | NC_000023.10:g.138 384896_138385221de lNC_000023.10:g.13 8384896_138385221d el | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 138,384,896 | 138,385,221 |