A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18102025



Internal ID20669065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49152411..49156159hg38UCSC Ensembl
chr3:49189844..49193592hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383749
hg193749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6366290
Supporting Variants
Samples
Known GenesLAMB2P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18102025
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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