A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730069



Internal ID21400885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52209770..52601273hg38UCSC Ensembl
chr13:52783905..53175408hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38391504
hg19391504
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16258890, nssv16256130, nssv16256426, nssv16258178
SamplesNA19238
Known GenesCKAP2, THSD1, TPTE2P3, VPS36
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730069
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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