A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944722



Internal ID30496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183134673..183205635hg38UCSC Ensembl
chr3:182852461..182923423hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3870963
hg1970963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451852
Supporting Variants
Samples
Known GenesLAMP3, MCF2L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944722
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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