A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976820



Internal ID51932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177619324..177765324hg38UCSC Ensembl
chr5:177046325..177192325hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38146001
hg19146001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457547
Supporting Variants
Samples
Known GenesFAM153A, LOC202181
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976820
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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