A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623783



Internal ID15822356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11269485..11313391hg38UCSC Ensembl
Outerchr10:11311448..11355354hg19UCSC Ensembl
Outerchr10:11351454..11395360hg18UCSC Ensembl
Outerchr10:11351454..11395360hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381977
hg191977
hg181977
hg171977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509343
Supporting Variants
SamplesNA18994
Known GenesCELF2
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)nssv623783
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