A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4898



Internal ID15549653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:81196668..81230501hg38UCSC Ensembl
Outerchr5:80492487..80526320hg19UCSC Ensembl
Outerchr5:80528243..80562076hg18UCSC Ensembl
Outerchr5:80528243..80562076hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg386196
hg196196
hg186196
hg176196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2698
SamplesNA18555
Known GenesRASGRF2, RNU5D-1, RNU5E-1
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)nsv4898
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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