A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126216



Internal ID20693256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130278101..130281200hg38UCSC Ensembl
chr5:129613794..129616893hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403198
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126216
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00529


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