A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509478



Internal ID8792418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117345366..117382999hg38UCSC Ensembl
Outerchr12:117783171..117820804hg19UCSC Ensembl
Outerchr12:116267554..116305187hg18UCSC Ensembl
Outerchr12:116245891..116283524hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg385507
hg195507
hg185507
hg175507
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619614, nssv620978
SamplesNA15510, NA10860
Known GenesNOS1
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)nsv509478
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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