A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970116



Internal ID18605340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43362858..43364720hg38UCSC Ensembl
Innerchr6:43330596..43332458hg19UCSC Ensembl
Innerchr6:43438574..43440436hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381863
hg191863
hg181863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2407294, nssv2407298, nssv2407292, nssv2407291, nssv2407297, nssv2407299, nssv2407300, nssv2407296, nssv2407293, nssv2407295
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF318
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970116
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer