A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7679



Internal ID15552712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30635077..30668709hg38UCSC Ensembl
Outerchr1:31107924..31141556hg19UCSC Ensembl
Outerchr1:30880511..30914143hg18UCSC Ensembl
Outerchr1:30777017..30810649hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3810806
hg1910806
hg1810806
hg1710806
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10785, nssv1031
SamplesNA18956, NA19240
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)nsv7679
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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