A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1154731



Internal ID15874491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178252727..178280426hg38UCSC Ensembl
Innerchr5:177679728..177707427hg19UCSC Ensembl
Innerchr5:177612334..177640033hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3827700
hg1927700
hg1827700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv600396
Supporting Variants
SamplesHGDP00546
Known GenesCOL23A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1154731
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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