A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977251



Internal ID52230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176561776..176567567hg38UCSC Ensembl
chr5:175988777..175994568hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg385792
hg195792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473597
Supporting Variants
Samples
Known GenesCDHR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977251
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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