A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584667



Internal ID16372076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230313107..230393735hg38UCSC Ensembl
Innerchr2:231177822..231258450hg19UCSC Ensembl
Innerchr2:230886066..230966694hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3880629
hg1980629
hg1880629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933607
Samples
Known GenesSP140, SP140L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584667
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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