A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6598



Internal ID15204837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:48552077..48557485hg38UCSC Ensembl
Outerchr10:49760122..49765530hg19UCSC Ensembl
Outerchr10:49430128..49435536hg18UCSC Ensembl
Outerchr10:49430128..49435536hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3813454
hg1913454
hg1813454
hg1713454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9798
SamplesNA18507
Known GenesARHGAP22
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)nsv6598
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