A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv837000



Internal ID16130956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20189043..20426741hg38UCSC Ensembl
Innerchr15:20394296..20631994hg19UCSC Ensembl
Innerchr15:18654310..18892008hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38237699
hg19237699
hg18237699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv567246
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)nssv837000
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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