A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508230



Internal ID15824257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99215143..99250692hg38UCSC Ensembl
Outerchr3:98933987..98969536hg19UCSC Ensembl
Outerchr3:100416677..100452226hg18UCSC Ensembl
Outerchr3:100416677..100452226hg17UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3835550
hg1935550
hg1835550
hg1735550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617479
SamplesCHM
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)nsv508230
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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