A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125546



Internal ID18930588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49877509..49877618hg38UCSC Ensembl
Outerchr12:50271292..50271401hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962272, nssv3979260
SamplesKWS1, KWS2
Known GenesFAIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125546
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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