A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16949212



Internal ID33493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:61874793..61875107hg38UCSC Ensembl
chr4:62740511..62740825hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140772
Supporting Variants
Samples
Known GenesLPHN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16949212
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001874


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer