A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116146



Internal ID19269728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:51621917..51622015hg38UCSC Ensembl
Outerchr16:51655828..51655926hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954471
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116146
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