A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453819



Internal ID231930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227158993..227170656hg38UCSC Ensembl
chr2:228023709..228035372hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3811664
hg1911664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924971
Samples
Known GenesCOL4A3, COL4A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453819
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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