A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952864



Internal ID17301738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70344684..70350883hg38UCSC Ensembl
Outerchr14:70811401..70817600hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998369
SamplesBILGI_BIOE
Known GenesCOX16, SYNJ2BP-COX16
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952864
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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