A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2264494



Internal ID17787472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30543279..30544787hg38UCSC Ensembl
Innerchr22:30939266..30940774hg19UCSC Ensembl
Innerchr22:29269266..29270774hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381509
hg191509
hg181509
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966101
Supporting Variants
SamplesHGDP00665
Known GenesSEC14L6
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)nssv2264494
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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