A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4303



Internal ID15202313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37577658..37591509hg38UCSC Ensembl
Outerchr4:37579280..37593131hg19UCSC Ensembl
Outerchr4:37255675..37269526hg18UCSC Ensembl
Outerchr4:37401846..37415697hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg385117
hg195117
hg185117
hg175117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3250
SamplesNA12878
Known GenesC4orf19, RELL1
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)nsv4303
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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