A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2268073



Internal ID17733222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38400038..38401148hg38UCSC Ensembl
Innerchr22:38796043..38797153hg19UCSC Ensembl
Innerchr22:37125989..37127099hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381111
hg191111
hg181111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962790
Supporting Variants
SamplesHGDP00456
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2268073
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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