A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3567819



Internal ID18519414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78233285..78285275hg38UCSC Ensembl
Innerchr17:76229366..76281356hg19UCSC Ensembl
Innerchr17:73740961..73792951hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3851991
hg1951991
hg1851991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066985
Supporting Variants
Samples
Known GenesLOC100996291, TMEM235
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3567819
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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