A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494949



Internal ID272077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102084491..102092423hg38UCSC Ensembl
chr11:101955222..101963154hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg387933
hg197933
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051379
Samples
Known GenesC11orf70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494949
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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