A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006647



Internal ID19095864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228889082..228900174hg38UCSC Ensembl
Innerchr2:229753798..229764890hg19UCSC Ensembl
Innerchr2:229462042..229473134hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3811093
hg1911093
hg1811093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586846, nssv3586845
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)nsv1006647
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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