nsv3547314
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,063
- Description:Absence of a L1HS mobile element insertion that is present in the reference
- Publication(s):Chaisson 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: 150 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 56 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3547314 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 24,811,659 (-15, +0) | 24,817,721 (-0, +2) | ||
nsv3547314 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 24,811,887 (-15, +0) | 24,817,949 (-0, +2) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14326783 | line1 deletion | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
nssv14326784 | line1 deletion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
nssv14326785 | line1 deletion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
nssv14326786 | line1 deletion | SAMN00006579 | Sequencing | Sequence alignment | Heterozygous | 13,953 |
nssv14326787 | line1 deletion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
nssv14326788 | line1 deletion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14326783 | Submitted genomic | NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 24,811,659 (-15, +0) | 24,817,721 (-0, +2) | ||
nssv14326784 | Submitted genomic | NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 24,811,659 (-15, +0) | 24,817,721 (-0, +2) | ||
nssv14326785 | Submitted genomic | NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 24,811,659 (-15, +0) | 24,817,721 (-0, +2) | ||
nssv14326786 | Submitted genomic | NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 24,811,659 (-15, +0) | 24,817,721 (-0, +2) | ||
nssv14326787 | Submitted genomic | NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 24,811,659 (-15, +0) | 24,817,721 (-0, +2) | ||
nssv14326788 | Submitted genomic | NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 24,811,659 (-15, +0) | 24,817,721 (-0, +2) | ||
nssv14326783 | Remapped | Perfect | NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 24,811,887 (-15, +0) | 24,817,949 (-0, +2) |
nssv14326784 | Remapped | Perfect | NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 24,811,887 (-15, +0) | 24,817,949 (-0, +2) |
nssv14326785 | Remapped | Perfect | NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 24,811,887 (-15, +0) | 24,817,949 (-0, +2) |
nssv14326786 | Remapped | Perfect | NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 24,811,887 (-15, +0) | 24,817,949 (-0, +2) |
nssv14326787 | Remapped | Perfect | NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 24,811,887 (-15, +0) | 24,817,949 (-0, +2) |
nssv14326788 | Remapped | Perfect | NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 24,811,887 (-15, +0) | 24,817,949 (-0, +2) |