A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584485



Internal ID16371894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217352895..217509343hg38UCSC Ensembl
Innerchr2:218217618..218374066hg19UCSC Ensembl
Innerchr2:217925863..218082311hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38156449
hg19156449
hg18156449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150826
Samples1782681219_A
Known GenesDIRC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584485
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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