A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18256226



Internal ID20823267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177986552..178841553hg38UCSC Ensembl
chr2:178851279..179706280hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38855002
hg19855002
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6548314
Supporting Variants
Samples
Known GenesCCDC141, DFNB59, FKBP7, MIR548N, OSBPL6, PDE11A, PLEKHA3, PRKRA, RBM45, TTN, TTN-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18256226
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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