A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452607



Internal ID230755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174845197..174845329hg38UCSC Ensembl
chr2:175709925..175710057hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922523
Samples
Known GenesCHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452607
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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