A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190802



Internal ID22341609
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 StatusM
Merged Variantsdgv108n152
Supporting Variantsnssv14414042
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)nsv3190802
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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