A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962801



Internal ID18598043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42773647..42780380hg38UCSC Ensembl
Innerchr22:43169653..43176386hg19UCSC Ensembl
Innerchr22:41499597..41506330hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386734
hg196734
hg186734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2270551, nssv2270552, nssv2270555, nssv2270553, nssv2270554, nssv2270549, nssv2270550, nssv2270547, nssv2270548, nssv2270556
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)nsv962801
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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