A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584453



Internal ID16025176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216104519..216166605hg38UCSC Ensembl
Innerchr2:216969242..217031328hg19UCSC Ensembl
Innerchr2:216677487..216739573hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3862087
hg1962087
hg1862087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150821
Samples1780854288_A
Known GenesXRCC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584453
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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