A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969395



Internal ID18604622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:42955967..42961278hg38UCSC Ensembl
Innerchr6:42923705..42929016hg19UCSC Ensembl
Innerchr6:43031683..43036994hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385312
hg195312
hg185312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2408053, nssv2408045, nssv2408046, nssv2408050, nssv2408052, nssv2408049, nssv2408051, nssv2408047, nssv2408054, nssv2408048
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGNMT
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969395
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