A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596947



Internal ID16037670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6680002..6744685hg38UCSC Ensembl
Innerchr5:6680115..6744798hg19UCSC Ensembl
Innerchr5:6733115..6797798hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3864684
hg1964684
hg1864684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152995
Samples1780862093_A
Known GenesLOC100505625, PAPD7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596947
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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