A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509095



Internal ID15825121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150531174..150571975hg38UCSC Ensembl
Outerchr5:149910736..149951537hg19UCSC Ensembl
Outerchr5:149890929..149931730hg18UCSC Ensembl
Outerchr5:149890929..149931730hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg384760
hg194760
hg184760
hg174760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620837
SamplesNA15510
Known GenesNDST1
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)nsv509095
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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