A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197418



Internal ID22347305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11096568..11096695hg38UCSC Ensembl
chr1:11156625..11156752hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325692, nssv14325693
SamplesHG00732, HG00733
Known GenesEXOSC10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197418
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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