A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110659



Internal ID18925064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:50142456..50142510hg38UCSC Ensembl
Outerchr1:50608128..50608182hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960314
SamplesKWS1
Known GenesELAVL4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110659
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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