A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14423697



Internal ID22162775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38207570..38207570hg38UCSC Ensembl
chr21:39579664..39579664hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3549474
Supporting Variants
SamplesHG00514
Known GenesDSCR10
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)nssv14423697
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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