A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508702



Internal ID15824729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236339317..236388186hg38UCSC Ensembl
Outerchr1:236502617..236551486hg19UCSC Ensembl
Outerchr1:234569240..234618109hg18UCSC Ensembl
Outerchr1:232828658..232877527hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3848870
hg1948870
hg1848870
hg1748870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620156, nssv622791
SamplesNA15510, NA18994
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)nsv508702
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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