A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149805



Internal ID15533278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74657093hg38UCSC Ensembl
Innerchr17:71834001..72653232hg19UCSC Ensembl
Innerchr17:69345596..70164827hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38819232
hg19819232
hg18819232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575992
Supporting Variants
SamplesNINDS_131
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)nssv1149805
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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