A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946383



Internal ID18246547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150054012..150054989hg38UCSC Ensembl
Innerchr1:150025994..150026975hg19UCSC Ensembl
Innerchr1:148292618..148293599hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38978
hg19982
hg18982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1797586, nssv1797594, nssv1797595, nssv1797592, nssv1797593, nssv1797590, nssv1797588, nssv1797589, nssv1797587, nssv1797591
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946383
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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