A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960264



Internal ID18595517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14767040..14779041hg38UCSC Ensembl
Innerchr18:14767039..14779040hg19UCSC Ensembl
Innerchr18:14757039..14769040hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3812002
hg1912002
hg1812002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2116900, nssv2116903, nssv2116901, nssv2116905, nssv2116904, nssv2116898, nssv2116907, nssv2116902, nssv2116899, nssv2116906
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD30B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960264
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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