A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410997



Internal ID22323519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177451317..177451425hg38UCSC Ensembl
chr5:176878318..176878426hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3288463
Supporting Variants
SamplesNA19240
Known GenesPRR7
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)nssv14410997
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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