A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945983



Internal ID18592833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65225877..65227819hg38UCSC Ensembl
Innerchr1:65691560..65693502hg19UCSC Ensembl
Innerchr1:65464148..65466090hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381943
hg191943
hg181943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1770071, nssv1770070, nssv1770074, nssv1770075, nssv1770077, nssv1770069, nssv1770073, nssv1770078, nssv1770072, nssv1770076
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAK4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945983
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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