A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508979



Internal ID15476477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196810982..196813584hg38UCSC Ensembl
Outerchr3:196537853..196540455hg19UCSC Ensembl
Outerchr3:198022250..198024852hg18UCSC Ensembl
Outerchr3:198026163..198028765hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg389734
hg199734
hg189734
hg179734
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619352, nssv623402
SamplesNA18994, NA10860
Known GenesPAK2
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)nsv508979
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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