A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466770



Internal ID22225263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152674734..152674734hg38UCSC Ensembl
chr7:152371819..152371819hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531336
Supporting Variants
SamplesHG00733
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)nssv14466770
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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