nsv3554663
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,505
- 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: 357 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 66 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3554663 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 48,880,467 (-1, +0) | 48,899,971 (-0, +1) | ||
nsv3554663 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 48,902,019 (-1, +0) | 48,921,523 (-0, +1) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14453819 | inversion | SAMN00001694 | Sequencing | Sequence alignment | Homozygous | 16,419 |
nssv14454609 | inversion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
nssv14459102 | inversion | SAMN00001695 | Sequencing | Sequence alignment | Heterozygous | 15,732 |
nssv14461069 | inversion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
nssv14466238 | inversion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
nssv14467413 | inversion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14453819 | Submitted genomic | NC_000011.10:g.(48 880466_48880467)_( 48899971_48899972) inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 (-1, +0) | 48,899,971 (-0, +1) | ||
nssv14454609 | Submitted genomic | NC_000011.10:g.(48 880466_48880467)_( 48899971_48899972) inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 (-1, +0) | 48,899,971 (-0, +1) | ||
nssv14459102 | Submitted genomic | NC_000011.10:g.(48 880466_48880467)_( 48899971_48899972) inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 (-1, +0) | 48,899,971 (-0, +1) | ||
nssv14461069 | Submitted genomic | NC_000011.10:g.(48 880466_48880467)_( 48899971_48899972) inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 (-1, +0) | 48,899,971 (-0, +1) | ||
nssv14466238 | Submitted genomic | NC_000011.10:g.(48 880466_48880467)_( 48899971_48899972) inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 (-1, +0) | 48,899,971 (-0, +1) | ||
nssv14467413 | Submitted genomic | NC_000011.10:g.(48 880466_48880467)_( 48899971_48899972) inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 (-1, +0) | 48,899,971 (-0, +1) | ||
nssv14453819 | Remapped | Perfect | NC_000011.9:g.(489 02018_48902019)_(4 8921523_48921524)i nv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 (-1, +0) | 48,921,523 (-0, +1) |
nssv14454609 | Remapped | Perfect | NC_000011.9:g.(489 02018_48902019)_(4 8921523_48921524)i nv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 (-1, +0) | 48,921,523 (-0, +1) |
nssv14459102 | Remapped | Perfect | NC_000011.9:g.(489 02018_48902019)_(4 8921523_48921524)i nv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 (-1, +0) | 48,921,523 (-0, +1) |
nssv14461069 | Remapped | Perfect | NC_000011.9:g.(489 02018_48902019)_(4 8921523_48921524)i nv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 (-1, +0) | 48,921,523 (-0, +1) |
nssv14466238 | Remapped | Perfect | NC_000011.9:g.(489 02018_48902019)_(4 8921523_48921524)i nv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 (-1, +0) | 48,921,523 (-0, +1) |
nssv14467413 | Remapped | Perfect | NC_000011.9:g.(489 02018_48902019)_(4 8921523_48921524)i nv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 (-1, +0) | 48,921,523 (-0, +1) |