A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001978



Internal ID19194467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130669026..130682327hg38UCSC Ensembl
Outerchr2:131426599..131439900hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3813302
hg1913302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151047
Supporting Variants
SamplesKWB1
Known GenesCYP4F30P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001978
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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