A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946063



Internal ID18592913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89660985..89662715hg38UCSC Ensembl
Innerchr1:90126544..90128274hg19UCSC Ensembl
Innerchr1:89899132..89900862hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381731
hg191731
hg181731
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1774973, nssv1774979, nssv1774972, nssv1774980, nssv1774975, nssv1774977, nssv1774974, nssv1774976, nssv1774971, nssv1774978
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLRRC8C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946063
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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