A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197630



Internal ID22347485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151705501..151716450hg38UCSC Ensembl
chr1:151677977..151688926hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3810950
hg1910950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286759, nssv14286755, nssv14286757, nssv14286756, nssv14286754, nssv14286753, nssv14286758, nssv14286761, nssv14286760
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCELF3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197630
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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