A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3719130



Internal ID18670725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:150721..203415hg38UCSC Ensembl
Innerchr17:514..53206hg19UCSC Ensembl
Innerchr17:514..53206hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3852695
hg1952693
hg1852693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058245
Supporting Variants
Samples
Known GenesDOC2B, LOC100506371
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3719130
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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