A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581724



Internal ID16022447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45531122..45542832hg38UCSC Ensembl
Innerchr2:45758261..45769971hg19UCSC Ensembl
Innerchr2:45611765..45623475hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811711
hg1911711
hg1811711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv908071
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581724
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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