A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv745492



Internal ID16039448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27292916..27416926hg38UCSC Ensembl
Innerchr10:27581845..27705855hg19UCSC Ensembl
Innerchr10:27621851..27745861hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38124011
hg19124011
hg18124011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv550244
Supporting Variants
Samples
Known GenesPTCHD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv745492
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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