A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6563073



Internal ID20936144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52107269..56893586hg38UCSC Ensembl
chr6:51972067..56758384hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg384786318
hg194786318
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18271481
Samples
Known GenesBMP5, COL21A1, DST, EFHC1, ELOVL5, FAM83B, FBXO9, GCLC, GCM1, GFRAL, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, GSTA7P, HCRTR2, HMGCLL1, ICK, IL17A, IL17F, KLHL31, LOC730101, LRRC1, MCM3, MIR133B, MIR206, MIR5685, MLIP, MLIP-IT1, PAQR8, RNU6-71P, RPS16P5, TINAG, TMEM14A, TRAM2, TRAM2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6563073
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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