A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509041



Internal ID15476539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:314395..438288hg38UCSC Ensembl
Outerchr5:314510..438403hg19UCSC Ensembl
Outerchr5:367510..491403hg18UCSC Ensembl
Outerchr5:367510..491403hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385917
hg195917
hg185917
hg175917
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619397, nssv623429, nssv620805
SamplesNA18994, NA15510, NA10860
Known GenesAHRR, PDCD6
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)nsv509041
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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