A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11080



Internal ID15192942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152210699..152214675hg38UCSC Ensembl
Outerchr1:152183175..152187151hg19UCSC Ensembl
Outerchr1:150449799..150453775hg18UCSC Ensembl
Outerchr1:148996248..149000224hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3812949
hg1912949
hg1812949
hg1712949
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2877
Supporting Variants
SamplesNA15510
Known GenesHRNR
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)nssv11080
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