A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442341



Internal ID220769
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 StatusM
Merged Variants
Supporting Variantsnssv16918541
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442341
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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