A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17082496



Internal ID21510431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77220916..77220916hg38UCSC Ensembl
chr14:77687259..77687259hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5659224
Supporting Variants
SamplesNA24385
Known GenesTMEM63C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17082496
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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