A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555830



Internal ID328979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61694821..61694872hg38UCSC Ensembl
chr11:61462293..61462344hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046577
Samples
Known GenesDAGLA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555830
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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