A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058169



Internal ID19147388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43099914..43112517hg38UCSC Ensembl
Innerchr17:41251931..41264534hg19UCSC Ensembl
Innerchr17:38505457..38518060hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3812604
hg1912604
hg1812604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3545117
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)nsv1058169
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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