A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129160



Internal ID18940459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49877456..49877537hg38UCSC Ensembl
Outerchr12:50271239..50271320hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962590
SamplesKWS1
Known GenesFAIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129160
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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