A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4020



Internal ID15202002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:135131247..135163801hg38UCSC Ensembl
Outerchr3:134850089..134882643hg19UCSC Ensembl
Outerchr3:136332779..136365333hg18UCSC Ensembl
Outerchr3:136332787..136365341hg17UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg386658
hg196658
hg186658
hg176658
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7035
SamplesNA12156
Known GenesEPHB1
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)nsv4020
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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