A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18124021



Internal ID20691062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1058794..1059387hg38UCSC Ensembl
chr5:1058909..1059502hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6384427
Supporting Variants
Samples
Known GenesSLC12A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18124021
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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