A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543189



Internal ID20916441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172819484..173358217hg38UCSC Ensembl
chr2:173684212..174222945hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38538734
hg19538734
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18256112
Samples
Known GenesCDCA7, MLK7-AS1, RAPGEF4, ZAK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543189
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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