A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18108125



Internal ID20675165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140551001..140552600hg38UCSC Ensembl
chr4:141472155..141473754hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6379033
Supporting Variants
Samples
Known GenesELMOD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18108125
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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