A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622691



Internal ID15474578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69166011..69276277hg38UCSC Ensembl
Outerchr10:70925767..71036033hg19UCSC Ensembl
Outerchr10:70595773..70706039hg18UCSC Ensembl
Outerchr10:70595773..70706039hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38110267
hg19110267
hg18110267
hg17110267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508589
Supporting Variants
SamplesNA18994
Known GenesHK1, HKDC1, SUPV3L1, VPS26A
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)nssv622691
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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