A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069663



Internal ID18974260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49018916..49021517hg38UCSC Ensembl
chr12:49412699..49415300hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382602
hg192602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768562
SamplesKWP1
Known GenesKMT2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069663
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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