A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212601



Internal ID20779641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102283698..103250486hg38UCSC Ensembl
chr5:101619402..102586187hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38966789
hg19966786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413922
Supporting Variants
Samples
Known GenesGIN1, LINC00491, LINC00492, PAM, PPIP5K2, SLCO4C1, SLCO6A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212601
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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