A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17613643



Internal ID21805690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116567503..116569944hg38UCSC Ensembl
chr12:117005308..117007749hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382442
hg192442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6036611
Supporting Variants
Samples
Known GenesMAP1LC3B2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17613643
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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