A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066985



Internal ID18809516
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 StatusM
Merged Variants
Supporting Variantsnssv3567819
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)nsv1066985
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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