A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971300



Internal ID18606520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42246714..42265524hg38UCSC Ensembl
Innerchr8:42104232..42123042hg19UCSC Ensembl
Innerchr8:42223389..42242199hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3818811
hg1918811
hg1818811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2500840, nssv2500839, nssv2500838, nssv2500842, nssv2500845, nssv2500837, nssv2500841, nssv2500836, nssv2500844, nssv2500843
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971300
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