A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110209



Internal ID19271453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57647517..57652217hg38UCSC Ensembl
Outerchr12:58041300..58046000hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg384701
hg194701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959478
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110209
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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