A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14427357



Internal ID22168150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:155733473..155733553hg38UCSC Ensembl
chr7:155526167..155526247hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179403
Supporting Variants
SamplesHG00514
Known GenesRBM33
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14427357
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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