A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952071



Internal ID16954258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88790893..89019992hg38UCSC Ensembl
Outerchr16:88857301..89086400hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38229100
hg19229100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000190
SamplesBILGI_BIOE
Known GenesAPRT, CBFA2T3, CDT1, GALNS, PABPN1L, TRAPPC2L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952071
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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