A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508493



Internal ID15824520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111052342..111100987hg38UCSC Ensembl
Outerchr1:111594964..111643609hg19UCSC Ensembl
Outerchr1:111396487..111445132hg18UCSC Ensembl
Outerchr1:111307006..111355651hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3848646
hg1948646
hg1848646
hg1748646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617520
SamplesCHM
Known Genes
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)nsv508493
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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