A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599663



Internal ID16387072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:127636313..127655764hg38UCSC Ensembl
Innerchr5:126972005..126991456hg19UCSC Ensembl
Innerchr5:126999904..127019355hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3819452
hg1919452
hg1819452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032092
Samples
Known GenesCTXN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599663
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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