A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125014



Internal ID19284361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61995541..62000341hg38UCSC Ensembl
Outerchr8:62908100..62912900hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg384801
hg194801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3834n106
Supporting Variantsnssv3977818
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125014
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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