A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509460



Internal ID15825486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:25622034..25649194hg38UCSC Ensembl
Outerchr12:25774968..25802128hg19UCSC Ensembl
Outerchr12:25666235..25693395hg18UCSC Ensembl
Outerchr12:25666235..25693395hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386221
hg196221
hg186221
hg176221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618091
SamplesCHM
Known GenesIFLTD1
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)nsv509460
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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