A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18233439



Internal ID20800479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19892211..20771420hg38UCSC Ensembl
chr8:19749722..20628931hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38879210
hg19879210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6433027
Supporting Variants
Samples
Known GenesATP6V1B2, LPL, LZTS1, LZTS1-AS1, SLC18A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18233439
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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