A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964641



Internal ID18599878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46139230..46140747hg38UCSC Ensembl
Innerchr22:46535104..46536621hg19UCSC Ensembl
Innerchr22:44913768..44915285hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381518
hg191518
hg181518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2269795, nssv2689865, nssv2689861, nssv2269793, nssv2689866, nssv2689863, nssv2689869, nssv2689867, nssv2269796, nssv2689862, nssv2689870, nssv2269791, nssv2269798, nssv2689868, nssv2269799, nssv2269792, nssv2269797, nssv2269800, nssv2689864, nssv2269794
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964641
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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