A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv925280



Internal ID16219236
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 StatusS
Merged Variantsnsv583603
Supporting Variants
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)nssv925280
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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