A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967635



Internal ID18602863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143713811..143724019hg38UCSC Ensembl
Innerchr8:144795981..144806189hg19UCSC Ensembl
Innerchr8:144867969..144878177hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810209
hg1910209
hg1810209
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2520899, nssv2520900, nssv2520902, nssv2520907, nssv2520906, nssv2520901, nssv2520904, nssv2520908, nssv2520905, nssv2520903
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM83H, MAPK15
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967635
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