A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995980



Internal ID19193355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13114527..13131748hg38UCSC Ensembl
Outerchr1:13181999..13199200hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3817222
hg1917202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150505
Supporting Variants
SamplesKWB1
Known GenesHNRNPCP5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3995980
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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