A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619492



Internal ID15471387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76492530..76527112hg38UCSC Ensembl
Outerchr7:76121847..76156429hg19UCSC Ensembl
Outerchr7:75959783..75994365hg18UCSC Ensembl
Outerchr7:75766498..75801080hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386068
hg196068
hg186068
hg176068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509211
Supporting Variants
SamplesNA10860
Known GenesDTX2, UPK3B
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)nssv619492
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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