A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17602904



Internal ID21794951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55530..2757097hg38UCSC Ensembl
chr12:164696..2866263hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382701568
hg192701568
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6110756
Supporting Variants
Samples
Known GenesADIPOR2, B4GALNT3, CACNA1C, CACNA1C-AS1, CACNA1C-AS4, CACNA1C-IT3, CACNA2D4, CCDC77, DCP1B, ERC1, FBXL14, IQSEC3, KDM5A, LINC00940, LINC00942, LOC574538, LRTM2, MIR3649, NINJ2, RAD52, SLC6A12, SLC6A13, WNK1, WNT5B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17602904
Frequency
Sample Size405
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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