A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538656



Internal ID15504746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:164397952..164456149hg38UCSC Ensembl
Innerchr5:163824958..163883155hg19UCSC Ensembl
Innerchr5:163757536..163815733hg18UCSC Ensembl
Innerchr5:163757536..163815733hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3858198
hg1958198
hg1858198
hg1758198
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462508
Supporting Variants
Samples1798860114_A
Known GenesLOC101927835
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)nssv538656
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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