A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18257193



Internal ID20824233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227224602..227225068hg38UCSC Ensembl
chr2:228089318..228089784hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6544672
Supporting Variants
Samples
Known GenesCOL4A3, LOC654841
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18257193
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00017


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