A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622456



Internal ID15474343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49578013..49732463hg38UCSC Ensembl
Outerchr3:49615446..49769896hg19UCSC Ensembl
Outerchr3:49590450..49744900hg18UCSC Ensembl
Outerchr3:49590450..49744900hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38154451
hg19154451
hg18154451
hg17154451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508217
Supporting Variants
SamplesNA18994
Known GenesAMIGO3, APEH, BSN, GMPPB, IP6K1, MST1, RNF123
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)nssv622456
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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