A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192844



Internal ID22343375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234274268..234276405hg38UCSC Ensembl
chr1:234410014..234412151hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382138
hg192138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14312677, nssv14312678, nssv14312676, nssv14312670, nssv14312674, nssv14312672, nssv14312673, nssv14312675, nssv14312671
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC35F3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192844
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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