A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945366



Internal ID18592217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231022365..231023962hg38UCSC Ensembl
Innerchr1:231158111..231159708hg19UCSC Ensembl
Innerchr1:229224734..229226331hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381598
hg191598
hg181598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1823274, nssv1823268, nssv1823267, nssv1823270, nssv1823273, nssv1823266, nssv1823265, nssv1823271, nssv1823272, nssv1823269
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM89A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945366
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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