A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125979



Internal ID20693019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139538201..139542900hg38UCSC Ensembl
chr5:138917786..138922485hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415534
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125979
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00076


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