A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561530



Internal ID22430298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33218662..33218662hg38UCSC Ensembl
chr19:33709568..33709568hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286340, nssv14286341, nssv14286342
SamplesHG00512, HG00513, HG00514
Known GenesSLC7A10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561530
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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