A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575996



Internal ID16016719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73838033..74649901hg38UCSC Ensembl
Innerchr17:71834172..72646040hg19UCSC Ensembl
Innerchr17:69345767..70157635hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38811869
hg19811869
hg18811869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5768n54
Supporting Variantsnssv876065
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RPL38, TTYH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575996
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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