A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18120078



Internal ID20687118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71423974..71427696hg38UCSC Ensembl
chr4:72289691..72293413hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg383723
hg193723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6380531
Supporting Variants
Samples
Known GenesSLC4A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18120078
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00392


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