A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110148



Internal ID19250341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143276001..143290185hg38UCSC Ensembl
Outerchr1:149019900..149035800hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3814185
hg1915901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959415
SamplesKWS1
Known GenesLOC101929780
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110148
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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