A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213298



Internal ID20780338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151324431..151332010hg38UCSC Ensembl
chr5:150703992..150711571hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg387580
hg197580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400892
Supporting Variants
Samples
Known GenesSLC36A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213298
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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