A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208484



Internal ID22356719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238144201..238153350hg38UCSC Ensembl
chr2:239052842..239061991hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg389150
hg199150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297956, nssv14297955, nssv14297959, nssv14297954, nssv14297957, nssv14297953, nssv14297961, nssv14297960, nssv14297958
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKLHL30
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208484
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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