A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111427



Internal ID19280132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198804623..198806286hg38UCSC Ensembl
Outerchr1:198773752..198775415hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381664
hg191664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv250n106
Supporting Variantsnssv3963561
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111427
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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