A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575155



Internal ID16015878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46276519hg38UCSC Ensembl
Innerchr17:44165803..44353885hg19UCSC Ensembl
Innerchr17:41521621..41709662hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38188083
hg19188083
hg18188042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5618n54
Supporting Variantsnssv872350, nssv872351
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575155
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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