A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954676



Internal ID16956863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48669346..48669599hg38UCSC Ensembl
Outerchr19:49172603..49172856hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002930
SamplesBILGI_BIOE
Known GenesNTN5, SEC1P
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954676
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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