A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215002



Internal ID22361476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44697551..44709800hg38UCSC Ensembl
chr21:46117466..46129715hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3812250
hg1912250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301666, nssv14301664, nssv14301670, nssv14301662, nssv14301669, nssv14301668, nssv14301665, nssv14301667, nssv14301663
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKRTAP10-12, TSPEAR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215002
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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