A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132322



Internal ID19259106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232754554..232761454hg38UCSC Ensembl
Outerchr1:232890300..232897200hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg386901
hg196901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv298n106
Supporting Variantsnssv3987093
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132322
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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