A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437888



Internal ID216465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85252405..85253048hg38UCSC Ensembl
chr2:85479528..85480171hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917334
Samples
Known GenesTCF7L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437888
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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