A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964584



Internal ID18253135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19791729..19795952hg38UCSC Ensembl
Innerchr22:19779252..19783475hg19UCSC Ensembl
Innerchr22:18159252..18163475hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384224
hg194224
hg184224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2255333, nssv2255337, nssv2255336, nssv2255331, nssv2255335, nssv2255338, nssv2255329, nssv2255332, nssv2255334, nssv2255330
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGNB1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964584
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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