A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv930379



Internal ID16224335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203029504..203036422hg38UCSC Ensembl
Innerchr2:203894227..203901145hg19UCSC Ensembl
Innerchr2:203602472..203609390hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg386919
hg196919
hg186919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584185
Supporting Variants
Samples
Known GenesNBEAL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv930379
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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