A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968351



Internal ID46221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75175000..75182000hg38UCSC Ensembl
chr5:74470825..74477825hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460396
Supporting Variants
Samples
Known GenesANKRD31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968351
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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