A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536929



Internal ID15164289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4032349..4124049hg38UCSC Ensembl
Innerchr3:4074033..4165733hg19UCSC Ensembl
Innerchr3:4049033..4140733hg18UCSC Ensembl
Innerchr3:4049033..4140733hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3891701
hg1991701
hg1891701
hg1791701
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460337
Supporting Variants
SamplesHGDP01333
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)nssv536929
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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