A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003845



Internal ID20570885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80430801..80434500hg38UCSC Ensembl
chr12:80824581..80828280hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458126
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003845
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0034


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