A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438370



Internal ID22181501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122705693..122705957hg38UCSC Ensembl
chr7:122345747..122346011hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3288293
Supporting Variants
SamplesHG00514
Known GenesCADPS2
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)nssv14438370
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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