nsv3554053
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:537,878
- 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: 1294 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1004 SVs from 70 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3554053 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 65,645,191 (-1, +0) | 66,183,068 (-0, +1) | ||
nsv3554053 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 42,827,894 (-1, +0) | 43,163,646 (-0, +1) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14452596 | inversion | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
nssv14453915 | inversion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
nssv14456902 | inversion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
nssv14457019 | inversion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
nssv14458390 | inversion | SAMN00001695 | Sequencing | Sequence alignment | Heterozygous | 15,732 |
nssv14460921 | inversion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
nssv14464086 | inversion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
nssv14466366 | inversion | SAMN00006579 | Sequencing | Sequence alignment | Heterozygous | 13,953 |
nssv14467594 | inversion | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14452596 | Submitted genomic | NC_000009.12:g.(65 645190_65645191)_( 66183068_66183069) inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,645,191 (-1, +0) | 66,183,068 (-0, +1) | ||
nssv14453915 | Submitted genomic | NC_000009.12:g.(65 645190_65645191)_( 66183068_66183069) inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,645,191 (-1, +0) | 66,183,068 (-0, +1) | ||
nssv14456902 | Submitted genomic | NC_000009.12:g.(65 645190_65645191)_( 66183068_66183069) inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,645,191 (-1, +0) | 66,183,068 (-0, +1) | ||
nssv14457019 | Submitted genomic | NC_000009.12:g.(65 645190_65645191)_( 66183068_66183069) inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,645,191 (-1, +0) | 66,183,068 (-0, +1) | ||
nssv14458390 | Submitted genomic | NC_000009.12:g.(65 645190_65645191)_( 66183068_66183069) inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,645,191 (-1, +0) | 66,183,068 (-0, +1) | ||
nssv14460921 | Submitted genomic | NC_000009.12:g.(65 645190_65645191)_( 66183068_66183069) inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,645,191 (-1, +0) | 66,183,068 (-0, +1) | ||
nssv14464086 | Submitted genomic | NC_000009.12:g.(65 645190_65645191)_( 66183068_66183069) inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,645,191 (-1, +0) | 66,183,068 (-0, +1) | ||
nssv14466366 | Submitted genomic | NC_000009.12:g.(65 645190_65645191)_( 66183068_66183069) inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,645,191 (-1, +0) | 66,183,068 (-0, +1) | ||
nssv14467594 | Submitted genomic | NC_000009.12:g.(65 645190_65645191)_( 66183068_66183069) inv | GRCh38 (hg38) | NC_000009.12 | Chr9 | 65,645,191 (-1, +0) | 66,183,068 (-0, +1) | ||
nssv14452596 | Remapped | Pass | NC_000009.11:g.(42 827893_42827894)_( 43163646_43163647) inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,827,894 (-1, +0) | 43,163,646 (-0, +1) |
nssv14453915 | Remapped | Pass | NC_000009.11:g.(42 827893_42827894)_( 43163646_43163647) inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,827,894 (-1, +0) | 43,163,646 (-0, +1) |
nssv14456902 | Remapped | Pass | NC_000009.11:g.(42 827893_42827894)_( 43163646_43163647) inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,827,894 (-1, +0) | 43,163,646 (-0, +1) |
nssv14457019 | Remapped | Pass | NC_000009.11:g.(42 827893_42827894)_( 43163646_43163647) inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,827,894 (-1, +0) | 43,163,646 (-0, +1) |
nssv14458390 | Remapped | Pass | NC_000009.11:g.(42 827893_42827894)_( 43163646_43163647) inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,827,894 (-1, +0) | 43,163,646 (-0, +1) |
nssv14460921 | Remapped | Pass | NC_000009.11:g.(42 827893_42827894)_( 43163646_43163647) inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,827,894 (-1, +0) | 43,163,646 (-0, +1) |
nssv14464086 | Remapped | Pass | NC_000009.11:g.(42 827893_42827894)_( 43163646_43163647) inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,827,894 (-1, +0) | 43,163,646 (-0, +1) |
nssv14466366 | Remapped | Pass | NC_000009.11:g.(42 827893_42827894)_( 43163646_43163647) inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,827,894 (-1, +0) | 43,163,646 (-0, +1) |
nssv14467594 | Remapped | Pass | NC_000009.11:g.(42 827893_42827894)_( 43163646_43163647) inv | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 42,827,894 (-1, +0) | 43,163,646 (-0, +1) |