A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001168



Internal ID19194027
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 StatusS
Merged Variantsnsv1153254
Supporting Variants
SamplesKWB1
Known GenesLOC100288142, NBPF8, NBPF9, PDE4DIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001168
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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