A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296639



Internal ID22299795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4978657..4979241hg38UCSC Ensembl
chr1:5038717..5039301hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209723
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296639
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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