A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945816



Internal ID18592666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21966456..22010223hg38UCSC Ensembl
Innerchr1:22292949..22336716hg19UCSC Ensembl
Innerchr1:22165536..22209303hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3843768
hg1943768
hg1843768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1764247, nssv1764249, nssv1764248, nssv1764250, nssv1764241, nssv1764242, nssv1764246, nssv1764244, nssv1764245, nssv1764243
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCELA3A, CELA3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945816
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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