A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575231



Internal ID16015954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46188336..46439340hg38UCSC Ensembl
Innerchr17:44265702..44516706hg19UCSC Ensembl
Innerchr17:41621479..41872146hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38251005
hg19251005
hg18250668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5623n54
Supporting Variantsnssv872487
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575231
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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