A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18110187



Internal ID20677227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143548436..143548964hg38UCSC Ensembl
chr4:144469589..144470117hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6380860
Supporting Variants
Samples
Known GenesSMARCA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18110187
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00029


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