A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288505



Internal ID22386917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29891113..29891178hg38UCSC Ensembl
chr7:29930729..29930794hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8451n152
Supporting Variantsnssv14381191
SamplesNA19240
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)nsv3288505
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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