A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5253



Internal ID15203358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34298117..34304170hg38UCSC Ensembl
Outerchr6:34265894..34271947hg19UCSC Ensembl
Outerchr6:34373872..34379925hg18UCSC Ensembl
Outerchr6:34373872..34379925hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3817924
hg1917924
hg1817924
hg1717924
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10493
SamplesNA18956
Known GenesNUDT3, RPS10-NUDT3
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)nsv5253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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