A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001756



Internal ID17294708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10790144..10797343hg38UCSC Ensembl
Outerchr1:10850201..10857400hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg387200
hg197200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953455
Supporting Variants
SamplesBILGI_BIOE
Known GenesCASZ1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001756
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