A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071490



Internal ID18977344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1789800..1790801hg38UCSC Ensembl
chr19:1789799..1790800hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764385
SamplesKWP1
Known GenesATP8B3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071490
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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