A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430652



Internal ID22172646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8481065..8481134hg38UCSC Ensembl
chr17:8384383..8384452hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194027
Supporting Variants
SamplesHG00514
Known GenesMYH10
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14430652
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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