A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv837007



Internal ID16130963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20193760..20420298hg38UCSC Ensembl
Innerchr15:20399013..20625551hg19UCSC Ensembl
Innerchr15:18659027..18885565hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38226539
hg19226539
hg18226539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv567250
Supporting Variants
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv837007
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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