A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967634



Internal ID45733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42635878..42644164hg38UCSC Ensembl
chr5:42635980..42644266hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg388287
hg198287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469121
Supporting Variants
Samples
Known GenesGHR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967634
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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