A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17158117



Internal ID21408137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6723315..6723315hg38UCSC Ensembl
chr5:6723428..6723428hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5624735
Supporting Variants
SamplesHG00512
Known GenesPAPD7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17158117
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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