A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16258178



Internal ID21399800
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730069
Supporting Variants
SamplesNA19238
Known GenesCKAP2, THSD1, TPTE2P3, VPS36
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16258178
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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