A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890617



Internal ID167923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153684587..153708587hg38UCSC Ensembl
chr1:153657063..153681063hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3824001
hg1924001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139001
Supporting Variants
Samples
Known GenesMIR8083, NPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890617
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00032


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