A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575235



Internal ID16015958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46190497..46330700hg38UCSC Ensembl
Innerchr17:44267863..44408066hg19UCSC Ensembl
Innerchr17:41623640..41763827hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38140204
hg19140204
hg18140188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5638n54
Supporting Variantsnssv872492
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575235
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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