A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284700



Internal ID22383067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101067256..101067307hg38UCSC Ensembl
chr13:101719608..101719659hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2405n152
Supporting Variantsnssv14458462
SamplesHG00733
Known GenesNALCN
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)nsv3284700
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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