A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964616



Internal ID18253167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:26557509..26564042hg38UCSC Ensembl
Innerchr22:26953475..26960008hg19UCSC Ensembl
Innerchr22:25283475..25290008hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg386534
hg196534
hg186534
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2264642, nssv2264645, nssv2264644, nssv2264646, nssv2264648, nssv2264643, nssv2264640, nssv2264647, nssv2264641, nssv2264649
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesTPST2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964616
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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