A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555734



Internal ID22424572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11499741..11499741hg38UCSC Ensembl
chr19:11610556..11610556hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420919
SamplesHG00514
Known GenesZNF653
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)nsv3555734
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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