A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16275699



Internal ID20484917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130952350..130952350hg38UCSC Ensembl
chr6:131273490..131273490hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4757522
Supporting Variants
Samples
Known GenesEPB41L2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16275699
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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