A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199070



Internal ID22348709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190203750..190203802hg38UCSC Ensembl
chr1:190172880..190172932hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv504n152
Supporting Variantsnssv14460443
SamplesHG00733
Known GenesBRINP3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199070
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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