A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384420



Internal ID22321196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37611748..37611819hg38UCSC Ensembl
chr1:38077349..38077491hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3872
hg19143
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174810
Supporting Variants
SamplesNA19240
Known GenesRSPO1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14384420
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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