A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599820



Internal ID16387229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139553566..139765464hg38UCSC Ensembl
Innerchr5:138933151..139145049hg19UCSC Ensembl
Innerchr5:138913335..139125233hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38211899
hg19211899
hg18211899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153102
SamplesNINDS_271
Known GenesCXXC5, LOC101929696, UBE2D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599820
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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