A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118451



Internal ID19284208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120814501..120840341hg38UCSC Ensembl
Outerchr1:148004800..148025900hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3825841
hg1921101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv188n106
Supporting Variantsnssv3958958
SamplesKWS1
Known GenesNBPF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118451
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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