A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997301



Internal ID18844846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:135002257..135004058hg38UCSC Ensembl
Outerchr3:134721099..134722900hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381802
hg191802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145941
Supporting Variants
SamplesKWB1
Known GenesEPHB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997301
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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