A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4991



Internal ID15549756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:127798212..127832064hg38UCSC Ensembl
Outerchr5:127133904..127167756hg19UCSC Ensembl
Outerchr5:127161803..127195655hg18UCSC Ensembl
Outerchr5:127161803..127195655hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386160
hg196160
hg186160
hg176160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2707
SamplesNA18555
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)nsv4991
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