A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914109



Internal ID10161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74548431..74548537hg38UCSC Ensembl
chr2:74775558..74775664hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450670
Supporting Variants
Samples
Known GenesLOXL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914109
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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