A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9467



Internal ID15540418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:109315755..109317770hg38UCSC Ensembl
Outerchr8:110327984..110329999hg19UCSC Ensembl
Outerchr8:110397160..110399175hg18UCSC Ensembl
Outerchr8:110397160..110399175hg17UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3812552
hg1912552
hg1812552
hg1712552
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6346
Supporting Variants
SamplesNA18517
Known GenesNUDCD1
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)nssv9467
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