A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537236



Internal ID15160686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:67343205..67662546hg38UCSC Ensembl
Innerchr3:67393629..67712970hg19UCSC Ensembl
Innerchr3:67476319..67795660hg18UCSC Ensembl
Innerchr3:67476319..67795660hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38319342
hg19319342
hg18319342
hg17319342
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460700
Supporting Variants
SamplesHGDP00649
Known GenesSUCLG2
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)nssv537236
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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