A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446797



Internal ID22224536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42302141..42302560hg38UCSC Ensembl
chr17:40454159..40454578hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192265
Supporting Variants
SamplesHG00733
Known GenesSTAT5A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14446797
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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