A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132321



Internal ID19255602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228608453..228647153hg38UCSC Ensembl
Outerchr1:228744200..228782900hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3838701
hg1938701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv287n106
Supporting Variantsnssv3987092
SamplesKWS1
Known GenesDUSP5P1, RHOU
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132321
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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