A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442228



Internal ID220662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171165777..171166073hg38UCSC Ensembl
chr2:172022287..172022583hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926821
Samples
Known GenesTLK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442228
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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