A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979687



Internal ID18614888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45177661..45179482hg38UCSC Ensembl
Innerchr22:45573542..45575363hg19UCSC Ensembl
Innerchr22:43952206..43954027hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381822
hg191822
hg181822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2268975, nssv2268980, nssv2268978, nssv2268981, nssv2268977, nssv2268972, nssv2268974, nssv2268979, nssv2268973, nssv2268976
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNUP50
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979687
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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