A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946382



Internal ID18246546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149885754..149887726hg38UCSC Ensembl
Innerchr1:149857304..149859276hg19UCSC Ensembl
Innerchr1:148123928..148125900hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381973
hg191973
hg181973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1797489, nssv1797491, nssv1797492, nssv1797495, nssv1797497, nssv1797496, nssv1797493, nssv1797490, nssv1797494, nssv1797498
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHIST2H2AB, HIST2H2AC, HIST2H2BE
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946382
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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