A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362714



Internal ID22198709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38978932..38980106hg38UCSC Ensembl
chr1:39444604..39445778hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205984
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362714
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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