A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389994



Internal ID22295121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225084810..225084810hg38UCSC Ensembl
chr1:225272512..225272512hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535840
Supporting Variants
SamplesNA19240
Known GenesDNAH14
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)nssv14389994
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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