A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281295



Internal ID22379618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7300642..7300727hg38UCSC Ensembl
chr5:7300755..7300840hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7182n152
Supporting Variantsnssv14411390
SamplesNA19240
Known GenesLOC442132
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)nsv3281295
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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