A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550948



Internal ID16338357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:53902329..53954595hg38UCSC Ensembl
Innerchr10:55662089..55714355hg19UCSC Ensembl
Innerchr10:55332095..55384361hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3852267
hg1952267
hg1852267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1153n54
Supporting Variantsnssv748245
Samples
Known GenesPCDH15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550948
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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