A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205583



Internal ID22354256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67709904..67710016hg38UCSC Ensembl
chr1:68175587..68175699hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv260n152
Supporting Variantsnssv14403466
SamplesNA19240
Known GenesGNG12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205583
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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