A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453699



Internal ID22248405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234395311..234395503hg38UCSC Ensembl
chr1:234531057..234531249hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177024
Supporting Variants
SamplesHG00733
Known GenesTARBP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14453699
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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