A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17154809



Internal ID21485629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94947555..94947555hg38UCSC Ensembl
chr5:94283259..94283259hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5633275
Supporting Variants
SamplesNA12878
Known GenesMCTP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17154809
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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