A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173899



Internal ID15526612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54487871..54523823hg38UCSC Ensembl
Innerchr10:56247631..56283583hg19UCSC Ensembl
Innerchr10:55917637..55953589hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3835953
hg1935953
hg1835953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv550964
Supporting Variants
SamplesHGDP00157
Known GenesPCDH15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173899
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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