A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953522



Internal ID17302396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13382063..13446033hg38UCSC Ensembl
Outerchr1:13693801..13772500hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3863971
hg1978700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003075
SamplesBILGI_BIOE
Known GenesPRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953522
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