A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5566018



Internal ID21514337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174642627..174643689hg38UCSC Ensembl
chr2:175507355..175508417hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110454
SamplesNA19239
Known GenesWIPF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5566018
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer