A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414292



Internal ID22149687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:121584987..121584987hg38UCSC Ensembl
chr10:123344501..123344501hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3554177
Supporting Variants
SamplesHG00514
Known GenesFGFR2
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)nssv14414292
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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