A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293169



Internal ID22288624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:164514290..164514581hg38UCSC Ensembl
chr1:164483527..164483818hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193436
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293169
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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