A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456554



Internal ID22214670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8953711..8953867hg38UCSC Ensembl
chr16:9047568..9047724hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3285924
Supporting Variants
SamplesHG00733
Known GenesUSP7
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)nssv14456554
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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