A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14412268



Internal ID22303482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44180574..44183286hg38UCSC Ensembl
chr6:44148311..44151023hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382713
hg192713
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183633
Supporting Variants
SamplesNA19240
Known GenesCAPN11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14412268
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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