A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443137



Internal ID22501007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51404349..51404586hg38UCSC Ensembl
chr8:52316909..52317146hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5910585
Supporting Variants
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443137
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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