A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4057



Internal ID15548728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:149666199..149700509hg38UCSC Ensembl
Outerchr3:149383986..149418296hg19UCSC Ensembl
Outerchr3:150866676..150900986hg18UCSC Ensembl
Outerchr3:150866684..150900994hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg385716
hg195716
hg185716
hg175716
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3110
SamplesNA18555
Known GenesWWTR1
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)nsv4057
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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