A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2251148



Internal ID17860112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15292924..15350978hg38UCSC Ensembl
Innerchr22:16626985..16685039hg19UCSC Ensembl
Innerchr22:15006985..15065039hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3858055
hg1958055
hg1858055
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979620
Supporting Variants
SamplesHGDP01284
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2251148
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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