A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967565



Internal ID18602793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12161515..12202391hg38UCSC Ensembl
Innerchr8:12019024..12059900hg19UCSC Ensembl
Innerchr8:12056433..12097309hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3840877
hg1940877
hg1840877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2496315, nssv2496314, nssv2496317, nssv2496322, nssv2496320, nssv2496316, nssv2496321, nssv2496323, nssv2496319, nssv2496318
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM86B1, FAM90A2P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967565
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