A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446009



Internal ID22225326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62938376..62938547hg38UCSC Ensembl
chr17:61015737..61015908hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199530
Supporting Variants
SamplesHG00733
Known GenesMIR548W
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14446009
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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