A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223117



Internal ID20790157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100074402..100075288hg38UCSC Ensembl
chr12:100468180..100469066hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38887
hg19887
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6592407
Supporting Variants
Samples
Known GenesUHRF1BP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223117
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00011


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