A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129538



Internal ID19257898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:115112624..115112734hg38UCSC Ensembl
Outerchr12:115550429..115550539hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963787
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129538
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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