A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622769



Internal ID15821342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:122584627..122630985hg38UCSC Ensembl
Outerchr10:124344143..124390501hg19UCSC Ensembl
Outerchr10:124334133..124380491hg18UCSC Ensembl
Outerchr10:124334133..124380491hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3846359
hg1946359
hg1846359
hg1746359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508611
Supporting Variants
SamplesNA18994
Known GenesDMBT1
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)nssv622769
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