A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509504



Internal ID15477002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41413841..41496764hg38UCSC Ensembl
Outerchr13:41987977..42070900hg19UCSC Ensembl
Outerchr13:40885977..40968900hg18UCSC Ensembl
Outerchr13:40885977..40968900hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386246
hg196246
hg186246
hg176246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620988
SamplesNA15510
Known GenesOR7E37P, RGCC
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)nsv509504
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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