A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971312



Internal ID18606532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:58500675..58504628hg38UCSC Ensembl
Innerchr8:59413234..59417187hg19UCSC Ensembl
Innerchr8:59575788..59579741hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg383954
hg193954
hg183954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2506532, nssv2506530, nssv2506534, nssv2506527, nssv2506526, nssv2506535, nssv2506533, nssv2506531, nssv2506529, nssv2506528
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)nsv971312
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