A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6042958



Internal ID21952270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201766722..201766722hg38UCSC Ensembl
chr2:202631445..202631445hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532247
Samples
Known GenesALS2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6042958
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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