A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14329459



Internal ID22327728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83622696..83622696hg38UCSC Ensembl
chr6:84332415..84332415hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564694
Supporting Variants
SamplesNA19240
Known GenesSNAP91
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14329459
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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