A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974829



Internal ID18263352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70021436..70030817hg38UCSC Ensembl
Innerchr16:70055339..70064720hg19UCSC Ensembl
Innerchr16:68612840..68622221hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg389382
hg199382
hg189382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2066073, nssv2066071, nssv2066075, nssv2066068, nssv2066069, nssv2066077, nssv2066072, nssv2066074, nssv2066076, nssv2066070
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMIR1972-1, MIR1972-2, PDXDC2P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974829
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