A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17084590



Internal ID21466895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93105435..93105435hg38UCSC Ensembl
chr14:93571780..93571780hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5646875
Supporting Variants
SamplesHG03065
Known GenesITPK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17084590
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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