A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124657



Internal ID18921704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49877817..49880917hg38UCSC Ensembl
Outerchr12:50271600..50274700hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv815n106
Supporting Variantsnssv3976712
SamplesKWS2
Known GenesFAIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124657
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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