A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5058



Internal ID15203143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:148313602..148346355hg38UCSC Ensembl
Outerchr5:147693165..147725918hg19UCSC Ensembl
Outerchr5:147673358..147706111hg18UCSC Ensembl
Outerchr5:147673358..147706111hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg386990
hg196990
hg186990
hg176990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3394
SamplesNA12878
Known GenesLOC102546294, SPINK7, SPINK9
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)nsv5058
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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