A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146061



Internal ID19196985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17704605..17704669hg38UCSC Ensembl
Outerchr17:17607919..17607983hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997427
SamplesKWB1
Known GenesRAI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146061
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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