A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962796



Internal ID18598038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40673538..40674636hg38UCSC Ensembl
Innerchr22:41069542..41070640hg19UCSC Ensembl
Innerchr22:39399488..39400586hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2268020, nssv2268018, nssv2268023, nssv2268015, nssv2268019, nssv2268022, nssv2268016, nssv2268021, nssv2268017, nssv2268024
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)nsv962796
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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