A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551595



Internal ID22420505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35181905..35181905hg38UCSC Ensembl
chr11:35203452..35203452hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442855
SamplesHG00733
Known GenesCD44
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)nsv3551595
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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