A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2263374



Internal ID17537596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25301655..25309320hg38UCSC Ensembl
Innerchr22:25697622..25705287hg19UCSC Ensembl
Innerchr22:24027622..24035287hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg387666
hg197666
hg187666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966095
Supporting Variants
SamplesHGDP01307
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)nssv2263374
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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