A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946165



Internal ID18593015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116589168..116627640hg38UCSC Ensembl
Innerchr1:117131790..117170262hg19UCSC Ensembl
Innerchr1:116933313..116971785hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3838473
hg1938473
hg1838473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1783215, nssv1783208, nssv1783212, nssv1783209, nssv1783210, nssv1783207, nssv1783216, nssv1783211, nssv1783214, nssv1783213
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIGSF3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946165
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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