A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18050053



Internal ID20617093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8419640..8420260hg38UCSC Ensembl
chr19:8484524..8485144hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6520380
Supporting Variants
Samples
Known GenesMARCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18050053
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00329


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