A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952679



Internal ID17301553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55054089..55060288hg38UCSC Ensembl
Outerchr16:55088001..55094200hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000147
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952679
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