A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3765036



Internal ID18959628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14089787..14093088hg38UCSC Ensembl
chr19:14200599..14203900hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg383302
hg193302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1071913
Supporting Variants
SamplesKWP1
Known GenesPRKACA, SAMD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3765036
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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