A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130815



Internal ID21478647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31926336..31926468hg38UCSC Ensembl
chr5:31926442..31926574hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581097
Supporting Variants
SamplesHG03486
Known GenesPDZD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130815
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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