A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998687



Internal ID18840785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13344977..13366678hg38UCSC Ensembl
Outerchr1:13450499..13472300hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3821702
hg1921802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149900
Supporting Variants
SamplesKWB1
Known GenesPRAMEF13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998687
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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