A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14354652



Internal ID22282554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18281123..18281123hg38UCSC Ensembl
chr1:18607617..18607617hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531816
Supporting Variants
SamplesNA19239
Known GenesIGSF21
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14354652
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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