A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118447



Internal ID18939996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144935011..144944311hg38UCSC Ensembl
Outerchr1:144064800..144074100hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg389301
hg199301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958953
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118447
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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