A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153805



Internal ID19198657
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 StatusM
Merged Variants
Supporting Variantsnssv4002459
SamplesKWB1
Known GenesCCDC144B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153805
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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