A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891683



Internal ID168648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173505765..173505944hg38UCSC Ensembl
chr1:173474904..173475083hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418743
Supporting Variants
Samples
Known GenesSLC9C2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891683
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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