A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477



Internal ID15550290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:130988015..131021457hg38UCSC Ensembl
Outerchr6:131309155..131342597hg19UCSC Ensembl
Outerchr6:131350848..131384290hg18UCSC Ensembl
Outerchr6:131350848..131384290hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385988
hg195988
hg185988
hg175988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8298
SamplesNA12156
Known GenesEPB41L2
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)nsv5477
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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