A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187536



Internal ID21326374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167205989..167205989hg38UCSC Ensembl
chr1:167175226..167175226hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg384339
hg194339
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3937042
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187536
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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