A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002459



Internal ID19194126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18604286..18620087hg38UCSC Ensembl
Outerchr17:18507599..18523400hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3815802
hg1915802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153805
Supporting Variants
SamplesKWB1
Known GenesCCDC144B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002459
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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