A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6390696



Internal ID21048249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6593613..6705584hg38UCSC Ensembl
chr5:6593726..6705697hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38111972
hg19111972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18133260
Samples
Known GenesLOC100505625, NSUN2, SRD5A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6390696
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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