A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4003



Internal ID15548669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130544785..130578365hg38UCSC Ensembl
Outerchr3:130263629..130297209hg19UCSC Ensembl
Outerchr3:131746319..131779899hg18UCSC Ensembl
Outerchr3:131746327..131779907hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385854
hg195854
hg185854
hg175854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv327, nssv7864
SamplesNA12156, NA19240
Known GenesCOL6A6
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)nsv4003
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer