A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280300



Internal ID22378612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197531378..197534140hg38UCSC Ensembl
chr1:197500508..197503270hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382763
hg192763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv516n152
Supporting Variantsnssv14408360, nssv14459588, nssv14433430
SamplesNA19240, HG00733, HG00514
Known GenesDENND1B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3280300
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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