A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575995



Internal ID16016718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74706775hg38UCSC Ensembl
Innerchr17:71834001..72702914hg19UCSC Ensembl
Innerchr17:69345596..70214509hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38868914
hg19868914
hg18868914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5768n54
Supporting Variantsnssv876064
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)nsv575995
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer