A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130030



Internal ID19280991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48210374..48213527hg38UCSC Ensembl
Outerchr3:48251864..48255017hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383154
hg193154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2522n106
Supporting Variantsnssv3965175
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130030
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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