A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981925



Internal ID18617121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30237598..30248050hg38UCSC Ensembl
Innerchr8:30095114..30105566hg19UCSC Ensembl
Innerchr8:30214656..30225108hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3810453
hg1910453
hg1810453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2496896, nssv2496891, nssv2496887, nssv2496889, nssv2496894, nssv2496888, nssv2496895, nssv2496893, nssv2496892, nssv2496890
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR548O2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981925
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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