A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427749



Internal ID22485619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5592388..5595830hg38UCSC Ensembl
chr4:5594115..5597557hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg383443
hg193443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5891414
Supporting Variants
Samples
Known GenesEVC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427749
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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