A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967811



Internal ID18603039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165279814..165286584hg38UCSC Ensembl
Innerchr4:166200966..166207736hg19UCSC Ensembl
Innerchr4:166420416..166427186hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg386771
hg196771
hg186771
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2341222, nssv2341220, nssv2341217, nssv2341221, nssv2341219, nssv2341218, nssv2341224, nssv2341226, nssv2341225, nssv2341223
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGK3P, KLHL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967811
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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