A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966095



Internal ID18254639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25301655..25309320hg38UCSC Ensembl
Innerchr22:25697622..25705287hg19UCSC Ensembl
Innerchr22:24027622..24035287hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg387666
hg197666
hg187666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2263375, nssv2263378, nssv2263380, nssv2263379, nssv2263383, nssv2263376, nssv2263377, nssv2263382, nssv2263381, nssv2263374
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966095
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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