A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964627



Internal ID18599864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37877595..37878095hg38UCSC Ensembl
Innerchr22:38273602..38274102hg19UCSC Ensembl
Innerchr22:36603548..36604048hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2267002, nssv2267007, nssv2267004, nssv2267003, nssv2267008, nssv2267006, nssv2267009, nssv2267011, nssv2267005, nssv2267010
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF3L
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964627
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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