A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192126



Internal ID22342751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203607716..203608202hg38UCSC Ensembl
chr1:203576844..203577330hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303566, nssv14303565, nssv14303567
SamplesNA19238, NA19239, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192126
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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