A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620212



Internal ID15819567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:89460004..89474023hg38UCSC Ensembl
Outerchr3:89509154..89523173hg19UCSC Ensembl
Outerchr3:89591844..89605863hg18UCSC Ensembl
Outerchr3:89591844..89605863hg17UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3814020
hg1914020
hg1814020
hg1714020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508227
Supporting Variants
SamplesNA15510
Known GenesEPHA3
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)nssv620212
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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