A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17085998



Internal ID21476990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51669849..51669849hg38UCSC Ensembl
chr14:52136567..52136567hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5651652
Supporting Variants
SamplesHG03486
Known GenesFRMD6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17085998
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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