A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066408



Internal ID19155627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43098010..43109546hg38UCSC Ensembl
Innerchr17:41250027..41261563hg19UCSC Ensembl
Innerchr17:38503553..38515089hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3811537
hg1911537
hg1811537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3175n100
Supporting Variantsnssv3545115
Samples
Known GenesBRCA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066408
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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