A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058376



Internal ID19147595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43096276..43107032hg38UCSC Ensembl
Innerchr17:41248293..41259049hg19UCSC Ensembl
Innerchr17:38501819..38512575hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810757
hg1910757
hg1810757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3545114, nssv3545113
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)nsv1058376
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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