A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550277



Internal ID16337686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27359140..27441332hg38UCSC Ensembl
Innerchr10:27648069..27730261hg19UCSC Ensembl
Innerchr10:27688075..27770267hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3882193
hg1982193
hg1882193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv745543
Samples
Known GenesPTCHD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550277
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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