A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4619



Internal ID15549346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:180828120..180849970hg38UCSC Ensembl
Outerchr4:181749273..181771123hg19UCSC Ensembl
Outerchr4:181986267..182008117hg18UCSC Ensembl
Outerchr4:182124422..182146272hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg386860
hg196860
hg186860
hg176860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3309
SamplesNA12878
Known Genes
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)nsv4619
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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