A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620778



Internal ID15820130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192209161..192209161hg38UCSC Ensembl
Outerchr3:191926950..191926950hg19UCSC Ensembl
Outerchr3:193409644..193409644hg18UCSC Ensembl
Outerchr3:193409652..193409652hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3810166
hg1910166
hg1810166
hg1710166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508976
Supporting Variants
SamplesNA15510
Known GenesFGF12
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)nssv620778
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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