A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313800



Internal ID22310907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8026925..8027022hg38UCSC Ensembl
chr1:8086985..8087082hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210233
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313800
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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