A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891682



Internal ID168647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173501682..173501682hg38UCSC Ensembl
chr1:173470821..173470821hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551087
Supporting Variants
Samples
Known GenesSLC9C2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000164


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