A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620887



Internal ID15820238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101675911..101754375hg38UCSC Ensembl
Outerchr7:101319191..101397655hg19UCSC Ensembl
Outerchr7:101105911..101184375hg18UCSC Ensembl
Outerchr7:100912626..100991090hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383644
hg193644
hg183644
hg173644
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509217
Supporting Variants
SamplesNA15510
Known Genes
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)nssv620887
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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