A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2264398



Internal ID17820436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30134664..30151695hg38UCSC Ensembl
Innerchr22:30530653..30547684hg19UCSC Ensembl
Innerchr22:28860653..28877684hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3817032
hg1917032
hg1817032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966100
Supporting Variants
SamplesHGDP00927
Known GenesHORMAD2
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)nssv2264398
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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