A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469419



Internal ID247205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56906618..56907884hg38UCSC Ensembl
chr5:56202445..56203711hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965567
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469419
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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