A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530136



Internal ID22399527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152674764..152674764hg38UCSC Ensembl
chr7:152371849..152371849hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401925
SamplesNA19240
Known GenesXRCC2
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)nsv3530136
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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