A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509458



Internal ID15825484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:19081842..19117051hg38UCSC Ensembl
Outerchr12:19234776..19269985hg19UCSC Ensembl
Outerchr12:19126043..19161252hg18UCSC Ensembl
Outerchr12:19126043..19161252hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg383788
hg193788
hg183788
hg173788
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623625
SamplesNA18994
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)nsv509458
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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