A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416748



Internal ID22152625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5638472..5638922hg38UCSC Ensembl
chr12:5747638..5748088hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201187
Supporting Variants
SamplesHG00514
Known GenesANO2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14416748
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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