A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362367



Internal ID22130194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40695128..40695579hg38UCSC Ensembl
chr1:41160800..41161251hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200580
Supporting Variants
SamplesHG00513
Known GenesNFYC
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362367
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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