A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4530



Internal ID15192571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:35509777..35543609hg38UCSC Ensembl
Outerchr20:34097606..34131358hg19UCSC Ensembl
Outerchr20:33561020..33594772hg18UCSC Ensembl
Outerchr20:33561020..33594772hg17UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg385963
hg195963
hg185963
hg175963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3364
Supporting Variants
SamplesNA12878
Known GenesC20orf173, CEP250, ERGIC3
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)nssv4530
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