A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984350



Internal ID18619537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71693703..71701621hg38UCSC Ensembl
Innerchr16:71727606..71735524hg19UCSC Ensembl
Innerchr16:70285107..70293025hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg387919
hg197919
hg187919
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2067063, nssv2067066, nssv2067071, nssv2067064, nssv2067069, nssv2067067, nssv2067070, nssv2067068, nssv2067065, nssv2067072
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPHLPP2, SNORA70D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984350
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