A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998722



Internal ID18845788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:21693757..21693824hg38UCSC Ensembl
Outerchr8:21551269..21551336hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149933
Supporting Variants
SamplesKWB1
Known GenesGFRA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998722
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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