A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894786



Internal ID170693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205600693..205602139hg38UCSC Ensembl
chr1:205569821..205571267hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381447
hg191447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449491
Supporting Variants
Samples
Known GenesMFSD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894786
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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