A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142934



Internal ID19268981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:27240875..27250064hg38UCSC Ensembl
Outerchr19:27731782..27740972hg19UCSC Ensembl
Cytoband19q11
Allele length
AssemblyAllele length
hg389190
hg199191
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979706
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142934
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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