A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004130



Internal ID18746661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197853627..197910598hg38UCSC Ensembl
Innerchr1:197822757..197879728hg19UCSC Ensembl
Innerchr1:196089380..196146351hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3856972
hg1956972
hg1856972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv558n100
Supporting Variantsnssv3487670
Samples
Known GenesC1orf53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004130
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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