A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448513



Internal ID226786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101358748..101359074hg38UCSC Ensembl
chr2:101975210..101975536hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917035
Samples
Known GenesCREG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448513
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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