A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2253601



Internal ID17887026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17013408..17019378hg38UCSC Ensembl
Innerchr22:17494298..17500268hg19UCSC Ensembl
Innerchr22:15874298..15880268hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg385971
hg195971
hg185971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966066
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)nssv2253601
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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