A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872378



Internal ID15819648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46092442..46215654hg38UCSC Ensembl
Innerchr17:44169808..44293020hg19UCSC Ensembl
Innerchr17:41525626..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38123213
hg19123213
hg18123172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575163
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv872378
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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