A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2261714



Internal ID17748476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24272733..24281093hg38UCSC Ensembl
Innerchr22:24668701..24677061hg19UCSC Ensembl
Innerchr22:22998701..23007061hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg388361
hg198361
hg188361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979658
Supporting Variants
SamplesHGDP00521
Known GenesSPECC1L, SPECC1L-ADORA2A
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)nssv2261714
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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