A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209742



Internal ID22357772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206781963..206782065hg38UCSC Ensembl
chr1:206955308..206955410hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv537n152
Supporting Variantsnssv14463016
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209742
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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