A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889596



Internal ID167157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113699005..113723213hg38UCSC Ensembl
chr1:114241627..114265835hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3824209
hg1924209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424255
Supporting Variants
Samples
Known GenesPHTF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889596
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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