A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125134



Internal ID18920382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:15180201..18091718hg38UCSC Ensembl
Outerchr16:15274058..18185575hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382911518
hg192911518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977940
SamplesKWS1
Known GenesABCC1, ABCC6, C16orf45, FOPNL, KIAA0430, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR484, MIR6506, MIR6511A-2, MIR6770-2, MPV17L, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, NPIPA8, PKD1P1, XYLT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125134
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer