A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008704



Internal ID19097921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167297015..167339861hg38UCSC Ensembl
Innerchr2:168153525..168196371hg19UCSC Ensembl
Innerchr2:167861771..167904617hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3842847
hg1942847
hg1842847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583007
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)nsv1008704
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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