A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3716



Internal ID15548353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:18107237..18140730hg38UCSC Ensembl
Outerchr3:18148729..18182222hg19UCSC Ensembl
Outerchr3:18123733..18157226hg18UCSC Ensembl
Outerchr3:18123733..18157226hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg385765
hg195765
hg185765
hg175765
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5947
SamplesNA19129
Known GenesLOC339862
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3716
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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