A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575994



Internal ID16016717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74695789hg38UCSC Ensembl
Innerchr17:71834001..72691928hg19UCSC Ensembl
Innerchr17:69345596..70203523hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38857928
hg19857928
hg18857928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5768n54
Supporting Variantsnssv876063
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)nsv575994
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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