A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591361



Internal ID16378770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119182985..119191140hg38UCSC Ensembl
Innerchr3:118901832..118909987hg19UCSC Ensembl
Innerchr3:120384522..120392677hg18UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg388156
hg198156
hg188156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971661
Samples
Known GenesUPK1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591361
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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