A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509757



Internal ID15825783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246662963..246703925hg38UCSC Ensembl
Outerchr1:246826265..246867227hg19UCSC Ensembl
Outerchr1:244892888..244933850hg18UCSC Ensembl
Outerchr1:243152306..243193268hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384511
hg194511
hg184511
hg174511
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619833, nssv621116, nssv623819
SamplesNA15510, NA18994, NA10860
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)nsv509757
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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