A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071030



Internal ID18978052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49878785..49880059hg38UCSC Ensembl
chr12:50272568..50273842hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381275
hg191275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767944
SamplesKWP1
Known GenesFAIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071030
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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