A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201704



Internal ID20768745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179341301..179479800hg38UCSC Ensembl
chr1:179310436..179448935hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38138500
hg19138500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322919
Supporting Variants
Samples
Known GenesAXDND1, SOAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201704
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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