A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115547



Internal ID18939720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38602360..38603460hg38UCSC Ensembl
Outerchr19:39093000..39094100hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1780n106
Supporting Variantsnssv3977357
SamplesKWS2
Known GenesMAP4K1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115547
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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