A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575834



Internal ID16363243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61042000..61050887hg38UCSC Ensembl
Innerchr17:59119361..59128248hg19UCSC Ensembl
Innerchr17:56474143..56483030hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg388888
hg198888
hg188888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5738n54
Supporting Variantsnssv875726, nssv875725, nssv875724, nssv875727, nssv875728
Samples
Known GenesBCAS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575834
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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