A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4051



Internal ID15548722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:147985255..148017545hg38UCSC Ensembl
Outerchr3:147703042..147735332hg19UCSC Ensembl
Outerchr3:149185732..149218022hg18UCSC Ensembl
Outerchr3:149185740..149218030hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg387445
hg197445
hg187445
hg177445
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3207
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)nsv4051
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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