A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584719



Internal ID16372128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234990715..235041640hg38UCSC Ensembl
Innerchr2:235899359..235950284hg19UCSC Ensembl
Innerchr2:235564098..235615023hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3850926
hg1950926
hg1850926
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152346
SamplesNINDS_54
Known GenesSH3BP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584719
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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