A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv779



Internal ID15544516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140591034..140626153hg38UCSC Ensembl
Outerchr8:141601133..141636252hg19UCSC Ensembl
Outerchr8:141670315..141705434hg18UCSC Ensembl
Outerchr8:141670315..141705434hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385880
hg195880
hg185880
hg175880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6427
Supporting Variants
SamplesNA19240
Known GenesAGO2, RNU6-31P
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)nssv779
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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