A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14460046



Internal ID22246852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107827602..107827691hg38UCSC Ensembl
chr2:108444058..108444147hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189016
Supporting Variants
SamplesHG00733
Known GenesRGPD4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14460046
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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