A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17435339



Internal ID22493209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19385459..19392998hg38UCSC Ensembl
chr8:19242970..19250509hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg387540
hg197540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5923811
Supporting Variants
Samples
Known GenesSH2D4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17435339
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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