A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442211



Internal ID220645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201020375..201020426hg38UCSC Ensembl
chr2:201885098..201885149hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922873
Samples
Known GenesFAM126B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442211
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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