A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510622



Internal ID15478118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99942336..100039611hg38UCSC Ensembl
Outerchr13:100594590..100691865hg19UCSC Ensembl
Outerchr13:99392591..99489866hg18UCSC Ensembl
Outerchr13:99392591..99489866hg17UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3897276
hg1997276
hg1897276
hg1797276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622678
SamplesNA18994
Known GenesLINC00554, ZIC2, ZIC5
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)nsv510622
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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