A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508320



Internal ID15824347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145952648..146036944hg38UCSC Ensembl
Outerchr4:146873800..146958096hg19UCSC Ensembl
Outerchr4:147093250..147177546hg18UCSC Ensembl
Outerchr4:147231405..147315701hg17UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3884297
hg1984297
hg1884297
hg1784297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618755
SamplesNA10860
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)nsv508320
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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