A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999221



Internal ID17292173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:12257944..12262643hg38UCSC Ensembl
Outerchr16:12351801..12356500hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952923
Supporting Variants
SamplesBILGI_BIOE
Known GenesSNX29
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999221
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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