A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420435



Internal ID22478305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140270799..140273117hg38UCSC Ensembl
chr5:139650384..139652702hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382319
hg192319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893589
Supporting Variants
Samples
Known GenesPFDN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420435
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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