A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070546



Internal ID19323948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102868109..102868172hg38UCSC Ensembl
chr12:103261887..103261950hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771286
SamplesKWP1
Known GenesPAH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070546
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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