A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953802



Internal ID16955989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30876680..30999279hg38UCSC Ensembl
Outerchr16:30888001..31010600hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38122600
hg19122600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000075
SamplesBILGI_BIOE
Known GenesBCL7C, CTF1, FBXL19, FBXL19-AS1, HSD3B7, MIR762, ORAI3, SETD1A, STX1B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953802
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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