A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953855



Internal ID17302729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21399889..21417888hg38UCSC Ensembl
Outerchr17:21303201..21321200hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3818000
hg1918000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000275
SamplesBILGI_BIOE
Known GenesKCNJ12, KCNJ18
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953855
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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