A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554806



Internal ID20927896
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 StatusM
Merged Variants
Supporting Variantsnssv18250193
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)nsv6554806
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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