A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6059757



Internal ID21968990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127867773..127867773hg38UCSC Ensembl
chr2:128625347..128625347hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525718
Samples
Known GenesAMMECR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6059757
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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