A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623390



Internal ID15821963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:152693324..152695248hg38UCSC Ensembl
Outerchr3:152411113..152413037hg19UCSC Ensembl
Outerchr3:153893803..153895727hg18UCSC Ensembl
Outerchr3:153893811..153895735hg17UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg384408
hg194408
hg184408
hg174408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508961
Supporting Variants
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)nssv623390
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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