A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951109



Internal ID16953296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19365590..19372389hg38UCSC Ensembl
Outerchr8:19223101..19229900hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998703
SamplesBILGI_BIOE
Known GenesSH2D4A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951109
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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