A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17142345



Internal ID21451832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138412444..138412444hg38UCSC Ensembl
chr6:138733581..138733581hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38545
hg19545
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5642353
Supporting Variants
SamplesHG01596
Known GenesHEBP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17142345
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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