A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590247



Internal ID16030970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48624552..48764496hg38UCSC Ensembl
Innerchr3:48661985..48801929hg19UCSC Ensembl
Innerchr3:48636989..48776933hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38139945
hg19139945
hg18139945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv963014
Samples
Known GenesCELSR3, IP6K2, MIR4793, MIR6824, NCKIPSD, PRKAR2A, SLC26A6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590247
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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