A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284185



Internal ID22382545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113314495..113314591hg38UCSC Ensembl
chr13:113968810..113968906hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429354
SamplesHG00514
Known GenesLAMP1
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)nsv3284185
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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