A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538308



Internal ID15511641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:23242576..23263637hg38UCSC Ensembl
Innerchr5:23242685..23263746hg19UCSC Ensembl
Innerchr5:23278442..23299503hg18UCSC Ensembl
Innerchr5:23278442..23299503hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3821062
hg1921062
hg1821062
hg1721062
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462011
Supporting Variants
SamplesNINDS_125
Known Genes
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)nssv538308
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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