A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17132004



Internal ID21503747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1584731..1584731hg38UCSC Ensembl
chr5:1584846..1584846hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5639035
Supporting Variants
SamplesNA19239
Known GenesSDHAP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17132004
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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