A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3725161



Internal ID18676756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73835799..74681161hg38UCSC Ensembl
Innerchr17:71831938..72677300hg19UCSC Ensembl
Innerchr17:69343533..70188895hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38845363
hg19845363
hg18845363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066636
Supporting Variants
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, 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)nssv3725161
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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