A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18096707



Internal ID20663747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152365301..152367100hg38UCSC Ensembl
chr3:152083090..152084889hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6363943
Supporting Variants
Samples
Known GenesMBNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18096707
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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