A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144040



Internal ID18922837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50674569..50675969hg38UCSC Ensembl
Outerchr3:50712000..50713400hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994756
SamplesKWS1
Known GenesDOCK3, MIR4787
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144040
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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