A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177826



Internal ID20744866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100569101..100577500hg38UCSC Ensembl
chr12:100962879..100971278hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464063
Supporting Variants
Samples
Known GenesGAS2L3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177826
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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