A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209085



Internal ID22357213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209904710..209912626hg38UCSC Ensembl
chr1:210078055..210085971hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg387917
hg197917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv541n152
Supporting Variantsnssv14305698, nssv14305700, nssv14305701, nssv14305702, nssv14305699, nssv14305697
SamplesHG00512, NA19239, HG00731, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209085
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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