A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581729



Internal ID16022452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45531580..45532633hg38UCSC Ensembl
Innerchr2:45758719..45759772hg19UCSC Ensembl
Innerchr2:45612223..45613276hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381054
hg191054
hg181054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6844n54
Supporting Variantsnssv908078
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581729
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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