A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060858



Internal ID20627898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50124063..50124779hg38UCSC Ensembl
chr1:50589735..50590451hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38717
hg19717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328946
Supporting Variants
Samples
Known GenesELAVL4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060858
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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