A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17143201



Internal ID21471321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94953872..94953872hg38UCSC Ensembl
chr5:94289576..94289576hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5631460
Supporting Variants
SamplesHG03125
Known GenesMCTP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17143201
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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