A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209996



Internal ID22357986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176395988..176396296hg38UCSC Ensembl
chr1:176365124..176365432hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv473n152
Supporting Variantsnssv14432479
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209996
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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