A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509142



Internal ID15825168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:82250485..82274618hg38UCSC Ensembl
Outerchr6:82960202..82984335hg19UCSC Ensembl
Outerchr6:83016921..83041054hg18UCSC Ensembl
Outerchr6:83016921..83041054hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3810013
hg1910013
hg1810013
hg1710013
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623482, nssv620857, nssv619455
SamplesNA15510, NA18994, NA10860
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)nsv509142
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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