A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901112



Internal ID1549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23784520..23785034hg38UCSC Ensembl
chr1:24111010..24111524hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426116
Supporting Variants
Samples
Known GenesPITHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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