A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538693



Internal ID15166041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176808074..176883163hg38UCSC Ensembl
Innerchr5:176235075..176310164hg19UCSC Ensembl
Innerchr5:176167681..176242770hg18UCSC Ensembl
Innerchr5:176167681..176242770hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3875090
hg1975090
hg1875090
hg1775090
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462559
Supporting Variants
SamplesNINDS_56
Known GenesHK3, UNC5A
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)nssv538693
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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