A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv928425



Internal ID15875695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188934773..188991217hg38UCSC Ensembl
Innerchr2:189799499..189855943hg19UCSC Ensembl
Innerchr2:189507744..189564188hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3856445
hg1956445
hg1856445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584058
Supporting Variants
Samples
Known GenesCOL3A1, MIR1245A, MIR1245B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv928425
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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