A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18106992



Internal ID20674032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:105539601..105581046hg38UCSC Ensembl
chr4:106460758..106502203hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3841446
hg1941446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6378864
Supporting Variants
Samples
Known GenesARHGEF38, ARHGEF38-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18106992
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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