A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000311



Internal ID16946577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228331100..228380999hg38UCSC Ensembl
Outerchr1:228518801..228568700hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3849900
hg1949900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952140
Supporting Variants
SamplesBILGI_BIOE
Known GenesOBSCN
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000311
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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