A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998079



Internal ID20565120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16389178..16678502hg38UCSC Ensembl
chr12:16542112..16831436hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38289325
hg19289325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465739
Supporting Variants
Samples
Known GenesLMO3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998079
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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