A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891214



Internal ID168326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152489543..152734782hg38UCSC Ensembl
chr1:152462019..152707258hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38245240
hg19245240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421580
Supporting Variants
Samples
Known GenesC1orf68, CRCT1, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891214
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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