A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149683



Internal ID19200630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:182213472..182218273hg38UCSC Ensembl
Outerchr2:183078199..183083000hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg384802
hg194802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000984
SamplesKWB1
Known GenesPDE1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149683
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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