A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17518048



Internal ID21842407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40511005..40517400hg38UCSC Ensembl
chr1:40976677..40983072hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386396
hg196396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5984125
Supporting Variants
Samples
Known GenesEXO5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17518048
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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