A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16949203



Internal ID33487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:61763381..61769381hg38UCSC Ensembl
chr4:62629099..62635099hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141253
Supporting Variants
Samples
Known GenesLPHN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16949203
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00047


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