A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072847



Internal ID18979731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4381231..4381417hg38UCSC Ensembl
chr19:4381228..4381414hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763829
SamplesKWP1
Known GenesSH3GL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072847
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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