A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623402



Internal ID15475289
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
hg383067
hg193067
hg183067
hg173067
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508979
Supporting Variants
SamplesNA18994
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)nssv623402
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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