A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287482



Internal ID22117765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154714739..154714947hg38UCSC Ensembl
chr1:154687215..154687423hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203258
Supporting Variants
SamplesHG00512
Known GenesKCNN3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287482
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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