A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195023



Internal ID22345263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159976954..159977006hg38UCSC Ensembl
chr1:159946744..159946796hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv440n152
Supporting Variantsnssv14407305
SamplesNA19240
Known GenesLINC01133
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195023
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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