A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071047



Internal ID18969938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94148223..94148924hg38UCSC Ensembl
chr12:94541999..94542700hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768139
SamplesKWP1
Known GenesPLXNC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071047
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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