A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511



Internal ID15550328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:142228895..142273823hg38UCSC Ensembl
Outerchr6:142550032..142594960hg19UCSC Ensembl
Outerchr6:142591725..142636653hg18UCSC Ensembl
Outerchr6:142591725..142636653hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3844929
hg1944929
hg1844929
hg1744929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8307
SamplesNA12156
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)nsv5511
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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