A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071247



Internal ID18969078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1152199..1154800hg38UCSC Ensembl
chr16:1202199..1204800hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382602
hg192602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765905
SamplesKWP1
Known GenesCACNA1H
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071247
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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