A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508334



Internal ID15480010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:173598737..173648386hg38UCSC Ensembl
Outerchr4:174519888..174569537hg19UCSC Ensembl
Outerchr4:174756463..174806112hg18UCSC Ensembl
Outerchr4:174894618..174944267hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3849650
hg1949650
hg1849650
hg1749650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622510, nssv618760
SamplesNA18994, NA10860
Known Genes
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)nsv508334
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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