A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596949



Internal ID16037672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6705744..6777656hg38UCSC Ensembl
Innerchr5:6705857..6777769hg19UCSC Ensembl
Innerchr5:6758857..6830769hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3871913
hg1971913
hg1871913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023702
Samples
Known GenesLOC100505625, PAPD7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596949
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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