A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946594



Internal ID18593444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203656890..203661599hg38UCSC Ensembl
Innerchr1:203626018..203630727hg19UCSC Ensembl
Innerchr1:201892641..201897350hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384710
hg194710
hg184710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1813243, nssv1813250, nssv1813246, nssv1813245, nssv1813247, nssv1813242, nssv1813251, nssv1813249, nssv1813244, nssv1813248
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesATP2B4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946594
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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