A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538685



Internal ID15502896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176132836..176303804hg38UCSC Ensembl
Innerchr5:175559839..175730807hg19UCSC Ensembl
Innerchr5:175492445..175663413hg18UCSC Ensembl
Innerchr5:175492445..175663413hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38170969
hg19170969
hg18170969
hg17170969
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462548
Supporting Variants
Samples1780854599_A
Known GenesLOC643201, SIMC1
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)nssv538685
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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