A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997854



Internal ID16944120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143289236..143402835hg38UCSC Ensembl
Outerchr5:142668801..142782400hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38113600
hg19113600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950421
Supporting Variants
SamplesBILGI_BIOE
Known GenesNR3C1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997854
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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