A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457571



Internal ID235611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156947837..156990464hg38UCSC Ensembl
chr5:156374848..156417475hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3842628
hg1942628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975912
Samples
Known GenesTIMD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457571
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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