A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918541



Internal ID13129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101144075..101150088hg38UCSC Ensembl
chr2:101760537..101766550hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442341
Supporting Variants
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918541
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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