A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140427



Internal ID18917931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165928856..165938267hg38UCSC Ensembl
Outerchr1:165898093..165907504hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg389412
hg199412
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979137
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140427
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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