A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16272129



Internal ID20481347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5728223..5729693hg38UCSC Ensembl
chr6:5728456..5729926hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg381471
hg191471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4741798
Supporting Variants
Samples
Known GenesFARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16272129
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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