A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5198



Internal ID15203297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:11042676..11074421hg38UCSC Ensembl
Outerchr6:11042909..11074654hg19UCSC Ensembl
Outerchr6:11150895..11182640hg18UCSC Ensembl
Outerchr6:11150895..11182640hg17UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg387756
hg197756
hg187756
hg177756
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10486
SamplesNA18956
Known GenesELOVL2, ELOVL2-AS1
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)nsv5198
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