A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014630



Internal ID19103848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43157890..43220627hg38UCSC Ensembl
Innerchr2:43385029..43447766hg19UCSC Ensembl
Innerchr2:43238533..43301270hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3862738
hg1962738
hg1862738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581574
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)nsv1014630
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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