A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072861



Internal ID18969603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13207885..13208786hg38UCSC Ensembl
chr19:13318699..13319600hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765674
SamplesKWP1
Known GenesCACNA1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072861
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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