A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508268



Internal ID15824295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194618407..194681984hg38UCSC Ensembl
Outerchr3:194339136..194402713hg19UCSC Ensembl
Outerchr3:195820425..195884002hg18UCSC Ensembl
Outerchr3:195820433..195884010hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3863578
hg1963578
hg1863578
hg1763578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619931
SamplesNA15510
Known GenesLSG1, TMEM44
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)nsv508268
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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