A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548720



Internal ID20921903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:124544441..124727597hg38UCSC Ensembl
chr2:125302018..125485174hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38183157
hg19183157
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18256725
Samples
Known GenesCNTNAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548720
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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