A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924971



Internal ID17395
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 StatusS
Merged Variantsnsv5453819
Supporting Variants
Samples
Known GenesCOL4A3, COL4A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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