A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003684



Internal ID20570724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80816340..80816814hg38UCSC Ensembl
chr12:81210119..81210593hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473746
Supporting Variants
Samples
Known GenesLIN7A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003684
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00197


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