A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17141670



Internal ID21419682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53345528..53345528hg38UCSC Ensembl
chr6:53210326..53210326hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5633385
Supporting Variants
SamplesHG00731
Known GenesELOVL5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17141670
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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