A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147169



Internal ID18852112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152350623..152357324hg38UCSC Ensembl
Outerchr1:152323099..152329800hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386702
hg196702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998531
SamplesKWB1
Known GenesFLG2, FLG-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147169
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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