A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531



Internal ID15203664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149237991..149253458hg38UCSC Ensembl
Outerchr6:149559127..149574594hg19UCSC Ensembl
Outerchr6:149600820..149616287hg18UCSC Ensembl
Outerchr6:149600820..149616287hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg387425
hg197425
hg187425
hg177425
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10521
SamplesNA18956
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)nsv5531
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