A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414042



Internal ID22149404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11964251..11970000hg38UCSC Ensembl
chr1:12024308..12030057hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385750
hg195750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190802
Supporting Variants
SamplesHG00514
Known GenesPLOD1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14414042
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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