A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621198



Internal ID15473862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47753956..47883831hg38UCSC Ensembl
Outerchr3:47795446..47925321hg19UCSC Ensembl
Outerchr3:47770450..47900325hg18UCSC Ensembl
Outerchr3:47770450..47900325hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg387917
hg197917
hg187917
hg177917
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508916
Supporting Variants
SamplesNA15510
Known GenesDHX30, MAP4, MIR1226, SMARCC1
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)nssv621198
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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