A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975912



Internal ID51338
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 StatusS
Merged Variantsnsv5457571
Supporting Variants
Samples
Known GenesTIMD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975912
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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