A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14435683



Internal ID22178779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48763017..48763680hg38UCSC Ensembl
chr6:48730654..48731317hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3171997
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14435683
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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