A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583604



Internal ID16024327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169487550..169607041hg38UCSC Ensembl
Innerchr2:170344060..170463551hg19UCSC Ensembl
Innerchr2:170052306..170171797hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38119492
hg19119492
hg18119492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7157n54
Supporting Variantsnssv925281
Samples
Known GenesBBS5, FASTKD1, KLHL41, PPIG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583604
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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