A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962791



Internal ID18598033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38722675..38723675hg38UCSC Ensembl
Innerchr22:39118680..39119680hg19UCSC Ensembl
Innerchr22:37448626..37449626hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2268152, nssv2268156, nssv2268154, nssv2268155, nssv2268149, nssv2268151, nssv2268148, nssv2268153, nssv2268157, nssv2268150
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTPBP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962791
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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