A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17505090



Internal ID22563034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19385478..19389422hg38UCSC Ensembl
chr8:19242989..19246933hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383945
hg193945
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5866849
Supporting Variants
Samples
Known GenesSH2D4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17505090
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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