A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068606



Internal ID18972758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8864203..8865304hg38UCSC Ensembl
chr12:9016799..9017900hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769021
SamplesKWP1
Known GenesA2ML1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068606
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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