A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16275418



Internal ID20484636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237343514..237343569hg38UCSC Ensembl
chr2:238252157..238252212hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4733370
Supporting Variants
Samples
Known GenesCOL6A3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16275418
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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