A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764539



Internal ID17761028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16321413..16346287hg38UCSC Ensembl
Innerchr1:16647908..16672782hg19UCSC Ensembl
Innerchr1:16520495..16545369hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3824875
hg1924875
hg1824875
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947414
Supporting Variants
SamplesHGDP00542
Known GenesFBXO42
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764539
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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