A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5040



Internal ID15549810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143172673..143205090hg38UCSC Ensembl
Outerchr5:142552238..142584655hg19UCSC Ensembl
Outerchr5:142532431..142564848hg18UCSC Ensembl
Outerchr5:142532431..142564848hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387314
hg197314
hg187314
hg177314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3392
SamplesNA12878
Known GenesARHGAP26
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)nsv5040
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