A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214173



Internal ID20781213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78982201..78985700hg38UCSC Ensembl
chr5:78278024..78281523hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413117
Supporting Variants
Samples
Known GenesARSB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214173
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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