A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509283



Internal ID15476781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140435015..140522401hg38UCSC Ensembl
Outerchr8:141445114..141532500hg19UCSC Ensembl
Outerchr8:141514296..141601682hg18UCSC Ensembl
Outerchr8:141514296..141601682hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383150
hg193150
hg183150
hg173150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620914
SamplesNA15510
Known GenesCHRAC1, TRAPPC9
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)nsv509283
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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