A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508548



Internal ID15824575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:113494941..113505205hg38UCSC Ensembl
Outerchr1:114037563..114047827hg19UCSC Ensembl
Outerchr1:113839086..113849350hg18UCSC Ensembl
Outerchr1:113749605..113759869hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3810265
hg1910265
hg1810265
hg1710265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618985
SamplesNA10860
Known GenesMAGI3
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)nsv508548
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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