A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5314



Internal ID15550111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:56671692..56705203hg38UCSC Ensembl
Outerchr6:56536490..56570001hg19UCSC Ensembl
Outerchr6:56644449..56677960hg18UCSC Ensembl
Outerchr6:56644449..56677960hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg385751
hg195751
hg185751
hg175751
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4917
SamplesNA19129
Known GenesDST, RNU6-71P
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)nsv5314
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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