A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18248470



Internal ID20815510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54888785..55573993hg38UCSC Ensembl
chr19:55400152..56085359hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38685209
hg19685208
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6596657
Supporting Variants
Samples
Known GenesBRSK1, COX6B2, DNAAF3, EPS8L1, FAM71E2, FCAR, GP6, HSPBP1, IL11, ISOC2, MIR6802, MIR6803, MIR6804, MIR6805, NAT14, NCR1, NLRP2, NLRP7, PPP1R12C, PPP6R1, PTPRH, RDH13, RNU6-35P, RNU6-64P, RPL28, SBK2, SBK3, SHISA7, SSC5D, SUV420H2, SYT5, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, UBE2S, ZNF628
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18248470
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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