A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3769215



Internal ID18968638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184967916..184968334hg38UCSC Ensembl
chr1:184937048..184937466hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1068748
Supporting Variants
SamplesKWP1
Known GenesFAM129A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3769215
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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