A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575919



Internal ID16363328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67983025..67994016hg38UCSC Ensembl
Innerchr17:65979141..65990132hg19UCSC Ensembl
Innerchr17:63409603..63420594hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3810992
hg1910992
hg1810992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5754n54
Supporting Variantsnssv875900
Samples
Known GenesBPTF, C17orf58
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575919
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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