A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998762



Internal ID16945028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46539435..46566734hg38UCSC Ensembl
Outerchr17:44616801..44644100hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3827300
hg1927300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953916
Supporting Variants
SamplesBILGI_BIOE
Known GenesARL17A, LRRC37A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998762
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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