A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543765



Internal ID317987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17172042..17172042hg38UCSC Ensembl
chr5:17172151..17172151hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381688
hg191688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962164
Samples
Known GenesLOC285696
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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