A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16952057



Internal ID35395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69947381..70016690hg38UCSC Ensembl
chr4:70813099..70882407hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3869310
hg1969309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459513
Supporting Variants
Samples
Known GenesCSN2, STATH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16952057
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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