A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509491



Internal ID15476989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154692639..154719309hg38UCSC Ensembl
Outerchr1:154665115..154691785hg19UCSC Ensembl
Outerchr1:152931739..152958409hg18UCSC Ensembl
Outerchr1:151478188..151504858hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg383440
hg193440
hg183440
hg173440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623795
SamplesNA18994
Known GenesKCNN3
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509491
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer