A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509088



Internal ID15825114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134727335..134727335hg38UCSC Ensembl
Outerchr5:134063025..134063025hg19UCSC Ensembl
Outerchr5:134090924..134090924hg18UCSC Ensembl
Outerchr5:134090924..134090924hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3817082
hg1917082
hg1817082
hg1717082
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618044
SamplesCHM
Known GenesSEC24A
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)nsv509088
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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