nsv4434617
- Organism: Homo sapiens
- Study:nstd172 (Deng et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:95,000
- Publication(s):Deng 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: 855 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 884 SVs from 82 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4434617 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,477,892 | 21,572,891 |
nsv4434617 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000005.9 | Chr5 | 21,478,001 | 21,573,000 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15746391 | duplication | NB09 | Sequencing | Sequence alignment | 582 |
nssv15747157 | duplication | SMI018 | Sequencing | Sequence alignment | 551 |
nssv15747305 | duplication | NB07 | Sequencing | Sequence alignment | 571 |
nssv15749252 | duplication | NB12 | Sequencing | Sequence alignment | 599 |
nssv15751172 | duplication | NB08 | Sequencing | Sequence alignment | 574 |
nssv15753443 | duplication | BTQ038 | Sequencing | Sequence alignment | 561 |
nssv15753533 | duplication | NB10 | Sequencing | Sequence alignment | 582 |
nssv15754545 | duplication | BTQ055 | Sequencing | Sequence alignment | 565 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15746391 | Remapped | Perfect | NC_000005.10:g.214 77892_21572891dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,477,892 | 21,572,891 |
nssv15747157 | Remapped | Perfect | NC_000005.10:g.214 77892_21572891dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,477,892 | 21,572,891 |
nssv15747305 | Remapped | Perfect | NC_000005.10:g.214 77892_21572891dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,477,892 | 21,572,891 |
nssv15749252 | Remapped | Perfect | NC_000005.10:g.214 77892_21572891dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,477,892 | 21,572,891 |
nssv15751172 | Remapped | Perfect | NC_000005.10:g.214 77892_21572891dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,477,892 | 21,572,891 |
nssv15753443 | Remapped | Perfect | NC_000005.10:g.214 77892_21572891dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,477,892 | 21,572,891 |
nssv15753533 | Remapped | Perfect | NC_000005.10:g.214 77892_21572891dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,477,892 | 21,572,891 |
nssv15754545 | Remapped | Perfect | NC_000005.10:g.214 77892_21572891dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,477,892 | 21,572,891 |
nssv15746391 | Submitted genomic | NC_000005.9:g.2147 8001_21573000dup | GRCh37.p13 | NC_000005.9 | Chr5 | 21,478,001 | 21,573,000 | ||
nssv15747157 | Submitted genomic | NC_000005.9:g.2147 8001_21573000dup | GRCh37.p13 | NC_000005.9 | Chr5 | 21,478,001 | 21,573,000 | ||
nssv15747305 | Submitted genomic | NC_000005.9:g.2147 8001_21573000dup | GRCh37.p13 | NC_000005.9 | Chr5 | 21,478,001 | 21,573,000 | ||
nssv15749252 | Submitted genomic | NC_000005.9:g.2147 8001_21573000dup | GRCh37.p13 | NC_000005.9 | Chr5 | 21,478,001 | 21,573,000 | ||
nssv15751172 | Submitted genomic | NC_000005.9:g.2147 8001_21573000dup | GRCh37.p13 | NC_000005.9 | Chr5 | 21,478,001 | 21,573,000 | ||
nssv15753443 | Submitted genomic | NC_000005.9:g.2147 8001_21573000dup | GRCh37.p13 | NC_000005.9 | Chr5 | 21,478,001 | 21,573,000 | ||
nssv15753533 | Submitted genomic | NC_000005.9:g.2147 8001_21573000dup | GRCh37.p13 | NC_000005.9 | Chr5 | 21,478,001 | 21,573,000 | ||
nssv15754545 | Submitted genomic | NC_000005.9:g.2147 8001_21573000dup | GRCh37.p13 | NC_000005.9 | Chr5 | 21,478,001 | 21,573,000 |