A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv177n106



Internal ID22794005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148990274..149076813hg38UCSC Ensembl
chr1:144810800..144894200hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3886540
hg1983401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1124580, nsv1132303
SamplesKWS2, KWS1
Known GenesLOC100288142, NBPF8, NBPF9, PDE4DIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv177n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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