A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599797



Internal ID16387206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:137146858..137191062hg38UCSC Ensembl
Innerchr5:136482547..136526751hg19UCSC Ensembl
Innerchr5:136510446..136554650hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3844205
hg1944205
hg1844205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153101
SamplesHGDP00859
Known GenesSPOCK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599797
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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