A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765521



Internal ID20541381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55531..2757097hg38UCSC Ensembl
chr12:164697..2866263hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382701567
hg192701567
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264283
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
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765521
Frequency
Sample Size25
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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