A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114469



Internal ID19265868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194581801..194581878hg38UCSC Ensembl
Outerchr3:194302530..194302607hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974371
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114469
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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