A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575993



Internal ID16016716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74694779hg38UCSC Ensembl
Innerchr17:71834001..72690918hg19UCSC Ensembl
Innerchr17:69345596..70202513hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38856918
hg19856918
hg18856918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5768n54
Supporting Variantsnssv876062
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575993
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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