A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946379



Internal ID18246543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149821422..149843849hg38UCSC Ensembl
Innerchr1:149792977..149815416hg19UCSC Ensembl
Innerchr1:148059601..148082040hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3822428
hg1922440
hg1822440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1798434, nssv1798438, nssv1798437, nssv1798439, nssv1798441, nssv1798433, nssv1798436, nssv1798442, nssv1798435, nssv1798440
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H3A, HIST2H3C, HIST2H4A, HIST2H4B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946379
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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