A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110454



Internal ID21503937
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 StatusS
Merged Variantsnsv5566018
Supporting Variants
SamplesNA19239
Known GenesWIPF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110454
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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