A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508219



Internal ID15479895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52707177..52769883hg38UCSC Ensembl
Outerchr3:52741193..52803899hg19UCSC Ensembl
Outerchr3:52716233..52778939hg18UCSC Ensembl
Outerchr3:52716233..52778939hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3862707
hg1962707
hg1862707
hg1762707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622458
SamplesNA18994
Known GenesNEK4, SPCS1
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)nsv508219
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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