A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538231



Internal ID15157068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:2735622..2774976hg38UCSC Ensembl
Innerchr5:2735736..2775090hg19UCSC Ensembl
Innerchr5:2788736..2828090hg18UCSC Ensembl
Innerchr5:2788736..2828090hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3839355
hg1939355
hg1839355
hg1739355
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461913
Supporting Variants
Samples1780862414_A
Known GenesC5orf38, IRX2
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)nssv538231
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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