A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444868



Internal ID22240797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54970764..54971176hg38UCSC Ensembl
chr17:53048125..53048537hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202086
Supporting Variants
SamplesHG00733
Known GenesSTXBP4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444868
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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