A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509261



Internal ID15476759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:37767151..37881434hg38UCSC Ensembl
Outerchr8:37624669..37738952hg19UCSC Ensembl
Outerchr8:37743827..37858110hg18UCSC Ensembl
Outerchr8:37743827..37858110hg17UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg386219
hg196219
hg186219
hg176219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620906
SamplesNA15510
Known GenesBRF2, GPR124, PROSC, RAB11FIP1
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)nsv509261
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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