A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550957



Internal ID15991680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54474589..54527341hg38UCSC Ensembl
Innerchr10:56234349..56287101hg19UCSC Ensembl
Innerchr10:55904355..55957107hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3852753
hg1952753
hg1852753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1155n54
Supporting Variantsnssv748254
Samples
Known GenesPCDH15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550957
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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