A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997708



Internal ID17290660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14591992..14603691hg38UCSC Ensembl
Outerchr5:14592101..14603800hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3811700
hg1911700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950652
Supporting Variants
SamplesBILGI_BIOE
Known GenesFAM105A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997708
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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