A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462352



Internal ID22213520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112432886..112433064hg38UCSC Ensembl
chr2:113190463..113190641hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280077
Supporting Variants
SamplesHG00733
Known GenesRGPD5, RGPD8
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)nssv14462352
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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