A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068309



Internal ID18973390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47500010..47586156hg38UCSC Ensembl
chr10:48891699..48985100hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3886147
hg1993402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768378
SamplesKWP1
Known GenesBMS1P1, BMS1P5, GLUD1P7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068309
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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