A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954327



Internal ID16956514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3181424..3181539hg38UCSC Ensembl
Outerchr1:3097988..3098103hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000551
SamplesBILGI_BIOE
Known GenesPRDM16
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954327
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