A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536946



Internal ID15155801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4140066..4271051hg38UCSC Ensembl
Innerchr3:4181750..4312735hg19UCSC Ensembl
Innerchr3:4156750..4287735hg18UCSC Ensembl
Innerchr3:4156750..4287735hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38130986
hg19130986
hg18130986
hg17130986
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460354
Supporting Variants
Samples1780854417_A
Known Genes
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)nssv536946
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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