A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598794



Internal ID16386203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84640651..84658113hg38UCSC Ensembl
Innerchr5:83936469..83953931hg19UCSC Ensembl
Innerchr5:83972225..83989687hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3817463
hg1917463
hg1817463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035438
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598794
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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