A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14288975



Internal ID22121445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150727954..150735710hg38UCSC Ensembl
chr1:150700430..150708186hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg387757
hg197757
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191759
Supporting Variants
SamplesHG00512
Known GenesCTSS
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14288975
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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