A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997394



Internal ID19192399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130415826..130445527hg38UCSC Ensembl
Outerchr2:131173399..131203100hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3829702
hg1929702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146033
Supporting Variants
SamplesKWB1
Known GenesCYP4F62P, FAR2P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997394
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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