A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287122



Internal ID22200752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154389833..154390203hg38UCSC Ensembl
chr1:154362309..154362679hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525190
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287122
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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