A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449246



Internal ID22244581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45517816..45517912hg38UCSC Ensembl
chr1:45983488..45983584hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187417
Supporting Variants
SamplesHG00733
Known GenesPRDX1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14449246
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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