A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17609931



Internal ID21801978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65192871..65192871hg38UCSC Ensembl
chr12:65586651..65586651hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6099455
Supporting Variants
Samples
Known GenesLEMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17609931
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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