A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283993



Internal ID22382350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29891112..29891176hg38UCSC Ensembl
chr7:29930728..29930792hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8451n152
Supporting Variantsnssv14466150
SamplesHG00733
Known GenesWIPF3
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)nsv3283993
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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