A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729247



Internal ID19027528
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 StatusS
Merged Variantsnsv1013034
Supporting Variants
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)nssv3729247
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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