A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059971



Internal ID19149190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43106571..43118313hg38UCSC Ensembl
Innerchr17:41258588..41270330hg19UCSC Ensembl
Innerchr17:38512114..38523856hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3811743
hg1911743
hg1811743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719443
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)nsv1059971
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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