A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977709



Internal ID52528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178017324..178023324hg38UCSC Ensembl
chr5:177444325..177450325hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455370
Supporting Variants
Samples
Known GenesFAM153C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977709
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000733


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