A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088769



Internal ID21491467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72053075..72053075hg38UCSC Ensembl
chr14:72519792..72519792hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5648882
Supporting Variants
SamplesNA19238
Known GenesRGS6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088769
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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