A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529770



Internal ID22399161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37162404..37302022hg38UCSC Ensembl
chr14:37631609..37771227hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38139619
hg19139619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371010, nssv14371009, nssv14371015, nssv14371014, nssv14371008, nssv14371011, nssv14371013, nssv14371012
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMIPOL1, SLC25A21, SLC25A21-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529770
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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