A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508691



Internal ID15824718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212824977..212855050hg38UCSC Ensembl
Outerchr1:212998319..213028392hg19UCSC Ensembl
Outerchr1:211064942..211095015hg18UCSC Ensembl
Outerchr1:209386714..209416787hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3830074
hg1930074
hg1830074
hg1730074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617401
SamplesCHM
Known GenesC1orf227
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)nsv508691
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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