A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952675



Internal ID16954862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:51150090..51157789hg38UCSC Ensembl
Outerchr16:51184001..51191700hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg387700
hg197700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000143
SamplesBILGI_BIOE
Known GenesSALL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952675
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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