A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946473



Internal ID18593323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162529016..162529724hg38UCSC Ensembl
Innerchr1:162498806..162499514hg19UCSC Ensembl
Innerchr1:160765430..160766138hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38709
hg19709
hg18709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1802521, nssv1802516, nssv1802519, nssv1802515, nssv1802517, nssv1802520, nssv1802514, nssv1802512, nssv1802518, nssv1802513
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUHMK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946473
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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