A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590634



Internal ID16031357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:73045804..73094939hg38UCSC Ensembl
Innerchr3:73094955..73144090hg19UCSC Ensembl
Innerchr3:73177645..73226780hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3849136
hg1949136
hg1849136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152256
Samples1780862565_A
Known GenesEBLN2, PPP4R2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590634
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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