A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14393925



Internal ID22330639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9478805..9587527hg38UCSC Ensembl
chr12:9631401..9740123hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38108723
hg19108723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223611
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14393925
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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