A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444236



Internal ID22240248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127764945..127764945hg38UCSC Ensembl
chr12:128249490..128249490hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3546396
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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