A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4512



Internal ID15549229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:132517297..132550353hg38UCSC Ensembl
Outerchr4:133438452..133471508hg19UCSC Ensembl
Outerchr4:133657902..133690958hg18UCSC Ensembl
Outerchr4:133796057..133829113hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg386370
hg196370
hg186370
hg176370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8006
SamplesNA12156
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)nsv4512
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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