A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132822



Internal ID18940301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3269639..3269691hg38UCSC Ensembl
Outerchr1:3186203..3186255hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987615
SamplesKWS1
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132822
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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