A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946421



Internal ID18593271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155686439..155689285hg38UCSC Ensembl
Innerchr1:155656230..155659076hg19UCSC Ensembl
Innerchr1:153922854..153925700hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg382847
hg192847
hg182847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1800494, nssv1800488, nssv1800490, nssv1800495, nssv1800486, nssv1800491, nssv1800493, nssv1800492, nssv1800487, nssv1800489
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDAP3, YY1AP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946421
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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