A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383549



Internal ID22293520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132404026..132404078hg38UCSC Ensembl
chr10:134217530..134217582hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3287982
Supporting Variants
SamplesNA19240
Known GenesPWWP2B
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)nssv14383549
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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