A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599946



Internal ID16387355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:148750575..148793126hg38UCSC Ensembl
Innerchr5:148130138..148172689hg19UCSC Ensembl
Innerchr5:148110331..148152882hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3842552
hg1942552
hg1842552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153606
SamplesNINDS_196
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599946
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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