A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4729



Internal ID15202781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14773448..14806057hg38UCSC Ensembl
Outerchr5:14773557..14806166hg19UCSC Ensembl
Outerchr5:14826557..14859166hg18UCSC Ensembl
Outerchr5:14826557..14859166hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg386804
hg196804
hg186804
hg176804
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7146
SamplesNA12156
Known GenesANKH
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)nsv4729
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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