A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110157



Internal ID18904511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:242393298..242395098hg38UCSC Ensembl
Outerchr1:242556600..242558400hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959424
SamplesKWS1
Known GenesPLD5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110157
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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