A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149752



Internal ID19197694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35018694..35022395hg38UCSC Ensembl
Outerchr5:35018799..35022500hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg383702
hg193702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001055
SamplesKWB1
Known GenesAGXT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149752
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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