A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622721



Internal ID15821294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:87521049..87618215hg38UCSC Ensembl
Outerchr10:89280806..89377972hg19UCSC Ensembl
Outerchr10:89270786..89367952hg18UCSC Ensembl
Outerchr10:89270786..89367952hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3897167
hg1997167
hg1897167
hg1797167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508598
Supporting Variants
SamplesNA18994
Known GenesMINPP1
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)nssv622721
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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