A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14441497



Internal ID22237880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:11742335..11742335hg38UCSC Ensembl
chr10:11784334..11784334hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3546214
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14441497
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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