A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452371



Internal ID230526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70215495..70216205hg38UCSC Ensembl
chr2:70442627..70443337hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914433
Samples
Known GenesTIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452371
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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