A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576002



Internal ID16016725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73842080..74673021hg38UCSC Ensembl
Innerchr17:71838219..72669160hg19UCSC Ensembl
Innerchr17:69349814..70180755hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38830942
hg19830942
hg18830942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5768n54
Supporting Variantsnssv876071
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, 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)nsv576002
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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