A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947421



Internal ID18247583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:28505951..28517348hg38UCSC Ensembl
Innerchr1:28832463..28843860hg19UCSC Ensembl
Innerchr1:28705050..28716447hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3811398
hg1911398
hg1811398
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2761555
SamplesHGDP00665
Known GenesRCC1, SNHG3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947421
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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