A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5313



Internal ID15550110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:56227548..56228362hg38UCSC Ensembl
Outerchr6:56092346..56093160hg19UCSC Ensembl
Outerchr6:56200305..56201119hg18UCSC Ensembl
Outerchr6:56200305..56201119hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg385778
hg195778
hg185778
hg175778
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2725
SamplesNA18555
Known GenesCOL21A1
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)nsv5313
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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