A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960674



Internal ID18595921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14751527..14755191hg38UCSC Ensembl
Innerchr18:14751526..14755190hg19UCSC Ensembl
Innerchr18:14741526..14745190hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg383665
hg193665
hg183665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2660956, nssv2660960, nssv2660959, nssv2660957, nssv2660955, nssv2660953, nssv2660961, nssv2660962, nssv2660954, nssv2660958
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD30B
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960674
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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