A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509280



Internal ID15825306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53639995..53709280hg38UCSC Ensembl
Outerchr1:54105668..54174953hg19UCSC Ensembl
Outerchr1:53878256..53947541hg18UCSC Ensembl
Outerchr1:53817689..53886974hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383649
hg193649
hg183649
hg173649
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619801
SamplesNA10860
Known GenesGLIS1
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)nsv509280
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