A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485



Internal ID15550299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133392981..133426494hg38UCSC Ensembl
Outerchr6:133714119..133747632hg19UCSC Ensembl
Outerchr6:133755812..133789325hg18UCSC Ensembl
Outerchr6:133755812..133789325hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385754
hg195754
hg185754
hg175754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4944
SamplesNA19129
Known GenesEYA4
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)nsv5485
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