A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518



Internal ID15550335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:144728257..144751315hg38UCSC Ensembl
Outerchr6:145049393..145072451hg19UCSC Ensembl
Outerchr6:145091086..145114144hg18UCSC Ensembl
Outerchr6:145091086..145114144hg17UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3816203
hg1916203
hg1816203
hg1716203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4947
SamplesNA19129
Known GenesUTRN
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)nsv5518
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