A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970085



Internal ID18258623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26367751..26370864hg38UCSC Ensembl
Innerchr6:26367979..26371092hg19UCSC Ensembl
Innerchr6:26475958..26479071hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg383114
hg193114
hg183114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2397456, nssv2397453, nssv2397448, nssv2397450, nssv2397449, nssv2397451, nssv2397454, nssv2397452, nssv2397457, nssv2397455
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesBTN3A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970085
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