A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947469



Internal ID18594316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:221121531..221134245hg38UCSC Ensembl
Innerchr1:221294873..221307587hg19UCSC Ensembl
Innerchr1:219361496..219374210hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3812715
hg1912715
hg1812715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2763656
SamplesHGDP00998
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947469
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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