A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065342



Internal ID21473510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42750556..42750724hg38UCSC Ensembl
chr1:43216227..43216395hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5570042
Supporting Variants
SamplesHG03371
Known GenesLEPRE1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065342
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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