A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3719135



Internal ID18670730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:801817..1218541hg38UCSC Ensembl
Innerchr17:705057..1121835hg19UCSC Ensembl
Innerchr17:651807..1068585hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38416725
hg19416779
hg18416779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064415
Supporting Variants
Samples
Known GenesABR, MIR3183, NXN, TIMM22
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3719135
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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