A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2270553



Internal ID17768293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42773647..42780380hg38UCSC Ensembl
Innerchr22:43169653..43176386hg19UCSC Ensembl
Innerchr22:41499597..41506330hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386734
hg196734
hg186734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962801
Supporting Variants
SamplesHGDP00542
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)nssv2270553
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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