A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144994



Internal ID18908272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:71754049..71754749hg38UCSC Ensembl
Outerchr3:71803200..71803900hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981605
SamplesKWS1
Known GenesEIF4E3, GPR27
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144994
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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