A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509151



Internal ID15476649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:118823819..118901881hg38UCSC Ensembl
Outerchr6:119144982..119223046hg19UCSC Ensembl
Outerchr6:119251685..119264745hg18UCSC Ensembl
Outerchr6:119251685..119264745hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3857262
hg1957262
hg1857262
hg1757262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620861
SamplesNA15510
Known GenesASF1A, MCM9
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)nsv509151
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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