A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575053



Internal ID16015776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43039112..43146838hg38UCSC Ensembl
Innerchr17:41191129..41298855hg19UCSC Ensembl
Innerchr17:38444655..38552381hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38107727
hg19107727
hg18107727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149367
SamplesHGDP01028
Known GenesBRCA1, NBR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575053
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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