A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224721



Internal ID22368065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99567251..99573000hg38UCSC Ensembl
chr14:100033588..100039337hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385750
hg195750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390979, nssv14387435, nssv14386368, nssv14378751, nssv14374794, nssv14382208, nssv14385973, nssv14379513, nssv14377037
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCCDC85C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224721
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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