A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5280



Internal ID15203388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:42621444..42635780hg38UCSC Ensembl
Outerchr6:42589182..42603518hg19UCSC Ensembl
Outerchr6:42697160..42711496hg18UCSC Ensembl
Outerchr6:42697160..42711496hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386476
hg196476
hg186476
hg176476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2723
SamplesNA18555
Known GenesUBR2
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)nsv5280
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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