A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6550475



Internal ID20923616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180748000..181393832hg38UCSC Ensembl
chr2:181612727..182258559hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38645833
hg19645833
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18256332
Samples
Known GenesMIR4437, SCHLAP1, UBE2E3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6550475
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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