A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730053



Internal ID21400869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95428113..95649582hg38UCSC Ensembl
chr2:96093861..96315330hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38221470
hg19221470
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16257366, nssv16256468, nssv16255943, nssv16256721, nssv16258739, nssv16257682, nssv16258455, nssv16256435, nssv16257217
SamplesHG00512, NA19239, HG00732, HG00733
Known GenesTRIM43, TRIM43B
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730053
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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