A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14422499



Internal ID22161081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:60112405..60140052hg38UCSC Ensembl
chr12:60506186..60533833hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3827648
hg1927648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228830
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)nssv14422499
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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