A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119398



Internal ID19272180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:18421107..18421166hg38UCSC Ensembl
Outerchr1:18747601..18747660hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959840
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119398
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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