A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5947



Internal ID15543426
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 StatusS
Merged Variantsnsv3716
Supporting Variants
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)nssv5947
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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