A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510735



Internal ID15826760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:39562424..39577603hg38UCSC Ensembl
Outerchr18:37142388..37157567hg19UCSC Ensembl
Outerchr18:35396386..35411565hg18UCSC Ensembl
Outerchr18:35396386..35411565hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3815180
hg1915180
hg1815180
hg1715180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620107
SamplesNA15510
Known GenesLINC00669
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)nsv510735
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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