A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538560



Internal ID15505896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111570373..111575088hg38UCSC Ensembl
Innerchr5:110906071..110910785hg19UCSC Ensembl
Innerchr5:110933970..110938684hg18UCSC Ensembl
Innerchr5:110933970..110938684hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg384716
hg194715
hg184715
hg174715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462385
Supporting Variants
SamplesHGDP00264
Known GenesSTARD4-AS1
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)nssv538560
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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