A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124669



Internal ID19259828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132535714..132537214hg38UCSC Ensembl
Outerchr12:133112300..133113800hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976723
SamplesKWS2
Known GenesFBRSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124669
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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