A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6416



Internal ID15551323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:136613244..136643331hg38UCSC Ensembl
Outerchr8:137625487..137655574hg19UCSC Ensembl
Outerchr8:137694669..137724756hg18UCSC Ensembl
Outerchr8:137694669..137724756hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg389407
hg199407
hg189407
hg179407
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10644
SamplesNA18956
Known Genes
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)nsv6416
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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