A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976616



Internal ID51800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168564067..168566012hg38UCSC Ensembl
chr5:167991072..167993017hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381946
hg191946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140511
Supporting Variants
Samples
Known GenesPANK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976616
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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