A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061965



Internal ID18804496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73835799..74694545hg38UCSC Ensembl
Innerchr17:71831938..72690684hg19UCSC Ensembl
Innerchr17:69343533..70202279hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38858747
hg19858747
hg18858747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3282n100
Supporting Variantsnssv3567795
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061965
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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