A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199216



Internal ID22348835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219411126..219411245hg38UCSC Ensembl
chr1:219584468..219584587hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309706, nssv14309705
SamplesHG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199216
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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