A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5234



Internal ID15203337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:27377838..27410246hg38UCSC Ensembl
Outerchr6:27345617..27378025hg19UCSC Ensembl
Outerchr6:27453596..27486004hg18UCSC Ensembl
Outerchr6:27453596..27486004hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg387322
hg197322
hg187322
hg177322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3424
SamplesNA12878
Known GenesZNF391
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)nsv5234
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