A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133254



Internal ID18921425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14620392..14620448hg38UCSC Ensembl
Outerchr19:14731204..14731260hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1717n106
Supporting Variantsnssv3988149
SamplesKWS1
Known GenesEMR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133254
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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