A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202741



Internal ID22351860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:708851..714250hg38UCSC Ensembl
chr7:748488..753887hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8326n152
Supporting Variantsnssv14437880
SamplesHG00514
Known GenesPRKAR1B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202741
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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