A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955084



Internal ID17303957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120005830..120008881hg38UCSC Ensembl
Outerchr1:120548453..120551504hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg383052
hg193052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000511
SamplesBILGI_BIOE
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955084
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