A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419696



Internal ID22156944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80025066..80025066hg38UCSC Ensembl
chr17:77998865..77998865hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553907
Supporting Variants
SamplesHG00514
Known GenesTBC1D16
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)nssv14419696
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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