A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285034



Internal ID22383406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:155366949..155367426hg38UCSC Ensembl
chr7:155159644..155160121hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466395
SamplesHG00733
Known GenesBLACE
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)nsv3285034
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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