A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17067047



Internal ID21434913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8668894..8668993hg38UCSC Ensembl
chr1:8728953..8729052hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5573601
Supporting Variants
SamplesHG00731
Known GenesRERE
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17067047
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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