A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013034



Internal ID19102252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:142597500..142658975hg38UCSC Ensembl
Innerchr2:143355069..143416544hg19UCSC Ensembl
Innerchr2:143071539..143133014hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3861476
hg1961476
hg1861476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729247, nssv3582817
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)nsv1013034
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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