A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575835



Internal ID16016558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61042000..61051300hg38UCSC Ensembl
Innerchr17:59119361..59128661hg19UCSC Ensembl
Innerchr17:56474143..56483443hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg389301
hg199301
hg189301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5738n54
Supporting Variantsnssv875735, nssv875730, nssv875731, nssv875732, nssv875729, nssv875733, nssv875734, nssv875736
Samples
Known GenesBCAS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575835
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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