A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620877



Internal ID15473542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1830914..1876982hg38UCSC Ensembl
Outerchr7:1870550..1916618hg19UCSC Ensembl
Outerchr7:1837076..1883144hg18UCSC Ensembl
Outerchr7:1643791..1689859hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg383339
hg193339
hg183339
hg173339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509186
Supporting Variants
SamplesNA15510
Known GenesMAD1L1, MIR4655
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)nssv620877
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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