A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535619



Internal ID22404860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:19985314..19985314hg38UCSC Ensembl
chr2:20185075..20185075hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420554
SamplesHG00514
Known GenesWDR35
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)nsv3535619
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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