A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403682



Internal ID22293289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96762266..96762578hg38UCSC Ensembl
chr1:97227822..97228134hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281197
Supporting Variants
SamplesNA19240
Known GenesPTBP2
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)nssv14403682
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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