A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946142



Internal ID18246306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112669913..112671698hg38UCSC Ensembl
Innerchr1:113212535..113214320hg19UCSC Ensembl
Innerchr1:113014058..113015843hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381786
hg191786
hg181786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1782248, nssv1782253, nssv1782249, nssv1782244, nssv1782245, nssv1782252, nssv1782247, nssv1782246, nssv1782251, nssv1782250
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCAPZA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946142
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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