A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538262



Internal ID15504770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9902228..9924060hg38UCSC Ensembl
Innerchr5:9902340..9924172hg19UCSC Ensembl
Innerchr5:9955340..9977172hg18UCSC Ensembl
Innerchr5:9955340..9977172hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3821833
hg1921833
hg1821833
hg1721833
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461955
Supporting Variants
Samples1798860210_A
Known GenesLOC285692
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)nssv538262
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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