A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18108126



Internal ID20675166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140551469..140552148hg38UCSC Ensembl
chr4:141472623..141473302hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6377662
Supporting Variants
Samples
Known GenesELMOD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18108126
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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