A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486970



Internal ID19074611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238486445..238605986hg38UCSC Ensembl
Innerchr1:238649745..238769286hg19UCSC Ensembl
Innerchr1:236716368..236835909hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38119542
hg19119542
hg18119542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006459
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)nssv3486970
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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