A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947460



Internal ID18594308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195677495..195720448hg38UCSC Ensembl
Innerchr1:195646625..195689578hg19UCSC Ensembl
Innerchr1:193913248..193956201hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3842954
hg1942954
hg1842954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2761686
SamplesHGDP00542
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947460
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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