A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508965



Internal ID15824991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:169528436..169557387hg38UCSC Ensembl
Outerchr3:169246224..169275175hg19UCSC Ensembl
Outerchr3:170728918..170757869hg18UCSC Ensembl
Outerchr3:170728926..170757877hg17UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg386366
hg196366
hg186366
hg176366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623394
SamplesNA18994
Known GenesMECOM
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)nsv508965
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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