A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510704



Internal ID15826729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27194720..27224829hg38UCSC Ensembl
Outerchr17:25521746..25551855hg19UCSC Ensembl
Outerchr17:22545873..22575982hg18UCSC Ensembl
Outerchr17:22545873..22575982hg17UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3830110
hg1930110
hg1830110
hg1730110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620097
SamplesNA15510
Known Genes
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)nsv510704
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