A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220533



Internal ID22365200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38171282..38171682hg38UCSC Ensembl
chr19:38661922..38662322hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286731, nssv14286729, nssv14286732, nssv14286730, nssv14286733, nssv14286734, nssv14286735
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513
Known GenesSIPA1L3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220533
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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