A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217849



Internal ID22363383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:11763162..11764267hg38UCSC Ensembl
chr10:11805161..11806266hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381106
hg191106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14329692, nssv14329691, nssv14329687, nssv14329686, nssv14329689, nssv14329688, nssv14329690, nssv14329684, nssv14329685
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesECHDC3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217849
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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