A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618012



Internal ID15817167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168860971..168860971hg38UCSC Ensembl
Outerchr2:169717481..169717481hg19UCSC Ensembl
Outerchr2:169425727..169425727hg18UCSC Ensembl
Outerchr2:169542988..169542988hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3818643
hg1918643
hg1818643
hg1718643
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508877
Supporting Variants
SamplesCHM
Known GenesNOSTRIN
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)nssv618012
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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