A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6595203



Internal ID20968274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70475726..71848465hg38UCSC Ensembl
chr14:70942443..72315182hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381372740
hg191372740
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18238575
Samples
Known GenesADAM20, ADAM20P1, LOC145474, MAP3K9, MED6, PCNX, SIPA1L1, SNORD56B, TTC9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6595203
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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