A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287829



Internal ID22386237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23929..24385hg38UCSC Ensembl
chr7:23929..24385hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38457
hg19457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8302n152
Supporting Variantsnssv14454423, nssv14378483
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3287829
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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