A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16268411



Internal ID20477629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7199819..7199962hg38UCSC Ensembl
chr12:7352415..7352558hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4749339
Supporting Variants
Samples
Known GenesPEX5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16268411
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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