A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2686873



Internal ID17837818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21193617..21202755hg38UCSC Ensembl
Innerchr22:21547906..21557044hg19UCSC Ensembl
Innerchr22:19877906..19887044hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg389139
hg199139
hg189139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966156
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2686873
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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