A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962770



Internal ID18598012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23656345..23678244hg38UCSC Ensembl
Innerchr22:23998532..24020431hg19UCSC Ensembl
Innerchr22:22328532..22350431hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3821900
hg1921900
hg1821900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2260944, nssv2260947, nssv2260147, nssv2260945, nssv2260940, nssv2260146, nssv2260946, nssv2260943, nssv2260942, nssv2260941
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGUSBP11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962770
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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