A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130234



Internal ID19283757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:37936909..37945409hg38UCSC Ensembl
Outerchr3:37978400..37986900hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg388501
hg198501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2510n106
Supporting Variantsnssv3966147
SamplesKWS2
Known GenesCTDSPL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130234
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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