A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001227



Internal ID17294179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:53949325..53949434hg38UCSC Ensembl
Outerchr8:54861885..54861994hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958513
Supporting Variants
SamplesBILGI_BIOE
Known GenesRGS20
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001227
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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