A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583603



Internal ID16371012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169487550..169533679hg38UCSC Ensembl
Innerchr2:170344060..170390189hg19UCSC Ensembl
Innerchr2:170052306..170098435hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3846130
hg1946130
hg1846130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925279, nssv925280, nssv925278
Samples
Known GenesBBS5, FASTKD1, KLHL41
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583603
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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