A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410620



Internal ID22468490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172368482..172368693hg38UCSC Ensembl
chr5:171795486..171795697hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900937
Supporting Variants
Samples
Known GenesSH3PXD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410620
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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