A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16264283



Internal ID20473501
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 StatusS
Merged Variantsnsv4765521
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
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16264283
Frequency
Sample Size25
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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