A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153254



Internal ID19199636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148990274..149076814hg38UCSC Ensembl
Outerchr1:144810799..144894200hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3886541
hg1983402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001168
SamplesKWB1
Known GenesLOC100288142, NBPF8, NBPF9, PDE4DIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153254
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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