A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575833



Internal ID16016556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61042000..61049598hg38UCSC Ensembl
Innerchr17:59119361..59126959hg19UCSC Ensembl
Innerchr17:56474143..56481741hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg387599
hg197599
hg187599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5738n54
Supporting Variantsnssv875722, nssv875721, nssv875723
Samples
Known GenesBCAS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575833
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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