A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002372



Internal ID19091589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100696006..100718557hg38UCSC Ensembl
Innerchr2:101312468..101335019hg19UCSC Ensembl
Innerchr2:100678900..100701451hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3822552
hg1922552
hg1822552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580098
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)nsv1002372
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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