A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202553



Internal ID22351702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72068703..72182627hg38UCSC Ensembl
chr6:72778406..72892330hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38113925
hg19113925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7966n152
Supporting Variantsnssv14462995
SamplesHG00733
Known GenesRIMS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202553
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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