A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068746



Internal ID18974311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184845603..184851652hg38UCSC Ensembl
chr1:184814737..184820786hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386050
hg196050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765227
SamplesKWP1
Known GenesFAM129A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068746
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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