A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17150603



Internal ID21404550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73643943..73643943hg38UCSC Ensembl
chr5:72939768..72939768hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5633927
Supporting Variants
SamplesHG00512
Known GenesARHGEF28
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17150603
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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