A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198730



Internal ID22348419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23504186..23505586hg38UCSC Ensembl
chr7:23543805..23545205hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8438n152
Supporting Variantsnssv14389650
SamplesNA19240
Known GenesTRA2A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198730
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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