A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111078



Internal ID19272173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:96226522..96226592hg38UCSC Ensembl
Outerchr12:96620300..96620370hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv858n106
Supporting Variantsnssv3962283
SamplesKWS1
Known GenesELK3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111078
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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