A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509461



Internal ID15825487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:28065320..28077119hg38UCSC Ensembl
Outerchr12:28218253..28230052hg19UCSC Ensembl
Outerchr12:28109520..28121319hg18UCSC Ensembl
Outerchr12:28109520..28121319hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386218
hg196218
hg186218
hg176218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623627
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)nsv509461
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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