A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18250193



Internal ID20817233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243642456..245264723hg38UCSC Ensembl
chr1:243805758..245428025hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381622268
hg191622268
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554806
Supporting Variants
Samples
Known GenesADSS, AKT3, C1orf100, C1orf101, COX20, DESI2, EFCAB2, HNRNPU, HNRNPU-AS1, KIF26B, LOC339529, ZBTB18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18250193
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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