A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16256130



Internal ID21399828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52215009..52595850hg38UCSC Ensembl
chr13:52789144..53169985hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38380842
hg19380842
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)nssv16256130
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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