A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966269



Internal ID18601499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:53985914..53987301hg38UCSC Ensembl
Innerchr4:54852081..54853468hg19UCSC Ensembl
Innerchr4:54546838..54548225hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381388
hg191388
hg181388
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2318892, nssv2318884, nssv2318889, nssv2318891, nssv2318887, nssv2318893, nssv2318885, nssv2318890, nssv2318888, nssv2318886
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL21P44
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966269
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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