A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14431074



Internal ID22173480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108190693..108194612hg38UCSC Ensembl
chr1:108733315..108737234hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383920
hg193920
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173641
Supporting Variants
SamplesHG00514
Known GenesSLC25A24
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14431074
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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