A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970094



Internal ID18258632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:27814460..27818423hg38UCSC Ensembl
Innerchr6:27782238..27786201hg19UCSC Ensembl
Innerchr6:27890217..27894180hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg383964
hg193964
hg183964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2399074, nssv2399067, nssv2399068, nssv2399072, nssv2399073, nssv2399070, nssv2399075, nssv2399069, nssv2399066, nssv2399071
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHIST1H2AJ, HIST1H2BM
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970094
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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