A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068409



Internal ID18974110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197199569..197203470hg38UCSC Ensembl
chr1:197168699..197172600hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772923
SamplesKWP1
Known GenesCRB1, ZBTB41
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068409
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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