A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953993



Internal ID16956180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234600655..234608754hg38UCSC Ensembl
Outerchr1:234736401..234744500hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg388100
hg198100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001622
SamplesBILGI_BIOE
Known GenesIRF2BP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953993
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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