A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6551282



Internal ID20924419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227174683..227175448hg38UCSC Ensembl
chr2:228039399..228040164hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38766
hg19766
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18257189
Samples
Known GenesCOL4A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6551282
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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