A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6550232



Internal ID20923381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64458584..64638606hg38UCSC Ensembl
chr1:64924267..65104289hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38180023
hg19180023
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18250616
Samples
Known GenesCACHD1, MIR4794
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6550232
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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