A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150505



Internal ID19196781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13114527..13131748hg38UCSC Ensembl
Outerchr1:13181999..13199200hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3817222
hg1917202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995980
SamplesKWB1
Known GenesHNRNPCP5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150505
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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