A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391092



Internal ID22306345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75095735..75095874hg38UCSC Ensembl
chr17:73091830..73091969hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190494
Supporting Variants
SamplesNA19240
Known GenesSLC16A5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391092
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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