A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954488



Internal ID16956675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49002068..49019667hg38UCSC Ensembl
Outerchr3:49039501..49057100hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3817600
hg1917600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001384
SamplesBILGI_BIOE
Known GenesDALRD3, P4HTM, WDR6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954488
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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