A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509746



Internal ID15477244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246610423..246644474hg38UCSC Ensembl
Outerchr1:246773725..246807776hg19UCSC Ensembl
Outerchr1:244840348..244874399hg18UCSC Ensembl
Outerchr1:243099766..243133817hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg383279
hg193279
hg183279
hg173279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619832
SamplesNA10860
Known GenesCNST
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)nsv509746
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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