A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729249



Internal ID19027530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:146092671..146129699hg38UCSC Ensembl
Innerchr2:146850239..146887267hg19UCSC Ensembl
Innerchr2:146566709..146603737hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3837029
hg1937029
hg1837029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006336
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729249
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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