A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110147



Internal ID19276888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143398628..143511029hg38UCSC Ensembl
Outerchr1:148841900..148954400hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38112402
hg19112501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv194n106
Supporting Variantsnssv3959414
SamplesKWS1
Known GenesLOC101929780, LOC645166
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110147
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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