A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18045975



Internal ID20613015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19145101..19147500hg38UCSC Ensembl
chr19:19255910..19258309hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6525320
Supporting Variants
Samples
Known GenesMEF2B, MEF2BNB-MEF2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18045975
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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