A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540239



Internal ID15504236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:8140025..8485077hg38UCSC Ensembl
Innerchr7:8179655..8524707hg19UCSC Ensembl
Innerchr7:8146180..8491232hg18UCSC Ensembl
Innerchr7:7952895..8297947hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38345053
hg19345053
hg18345053
hg17345053
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464305
Supporting Variants
Samples1780862599_A
Known GenesICA1, NXPH1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv540239
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer