A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954950



Internal ID17303823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:45681049..45681363hg38UCSC Ensembl
Outerchr18:43261014..43261328hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002704
SamplesBILGI_BIOE
Known GenesSLC14A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954950
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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