A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000300



Internal ID16946566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226884900..226895699hg38UCSC Ensembl
Outerchr1:227072601..227083400hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3810800
hg1910800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952130
Supporting Variants
SamplesBILGI_BIOE
Known GenesPSEN2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000300
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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