A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967124



Internal ID45400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75535000..75540000hg38UCSC Ensembl
chr5:74830825..74835825hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141072
Supporting Variants
Samples
Known GenesPOLK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967124
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000157


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