A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451948



Internal ID22246924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:182376996..182377365hg38UCSC Ensembl
chr4:183298149..183298518hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187297
Supporting Variants
SamplesHG00733
Known GenesTENM3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451948
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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