A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069640



Internal ID19320265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9283455..9283508hg38UCSC Ensembl
chr12:9436051..9436104hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768283
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069640
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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