A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537203



Internal ID22406412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88181474..88181474hg38UCSC Ensembl
chr2:88480993..88480993hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420627
SamplesHG00514
Known GenesTHNSL2
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)nsv3537203
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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