A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065769



Internal ID18808300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49091661..49191783hg38UCSC Ensembl
Innerchr17:47169023..47269145hg19UCSC Ensembl
Innerchr17:44524022..44624144hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38100123
hg19100123
hg18100123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3568606
Samples
Known GenesB4GALNT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065769
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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