A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377731



Internal ID22318478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98140129..98140179hg38UCSC Ensembl
chr7:97769441..97769491hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3284945
Supporting Variants
SamplesNA19240
Known GenesLMTK2
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)nssv14377731
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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