A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008398



Internal ID19097616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188930267..188966627hg38UCSC Ensembl
Innerchr2:189794993..189831353hg19UCSC Ensembl
Innerchr2:189503238..189539598hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3836361
hg1936361
hg1836361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583894
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)nsv1008398
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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