A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4130



Internal ID15548809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:177509574..177542243hg38UCSC Ensembl
Outerchr3:177227362..177260031hg19UCSC Ensembl
Outerchr3:178710056..178742725hg18UCSC Ensembl
Outerchr3:178710064..178742733hg17UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg387351
hg197351
hg187351
hg177351
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2432
SamplesNA18555
Known GenesLINC00578
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)nsv4130
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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