A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129543



Internal ID19250708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:133232251..133232313hg38UCSC Ensembl
Outerchr12:133808837..133808899hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963792
SamplesKWS1
Known GenesANHX
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129543
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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