A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6127



Internal ID15204319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25942504..25975126hg38UCSC Ensembl
Outerchr8:25800020..25832642hg19UCSC Ensembl
Outerchr8:25855937..25888559hg18UCSC Ensembl
Outerchr8:25855937..25888559hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg387408
hg197408
hg187408
hg177408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1728
SamplesNA18555
Known GenesEBF2
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)nsv6127
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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