A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4005



Internal ID15548671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130618956..130652864hg38UCSC Ensembl
Outerchr3:130337800..130371708hg19UCSC Ensembl
Outerchr3:131820490..131854398hg18UCSC Ensembl
Outerchr3:131820498..131854406hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385524
hg195524
hg185524
hg175524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7866
SamplesNA12156
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)nsv4005
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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