A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410308



Internal ID22289670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150181232..150181440hg38UCSC Ensembl
chr3:149899019..149899227hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280796
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14410308
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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