A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519204



Internal ID15099811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30864570..30929301hg38UCSC Ensembl
Innerchr1:31337417..31402148hg19UCSC Ensembl
Innerchr1:31110004..31174735hg18UCSC Ensembl
Innerchr1:31006510..31071241hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3864732
hg1964732
hg1864732
hg1764732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696692
Samples
Known GenesSDC3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519204
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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