A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619498



Internal ID15471393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102662120..102696680hg38UCSC Ensembl
Outerchr7:102302567..102337127hg19UCSC Ensembl
Outerchr7:102089803..102124363hg18UCSC Ensembl
Outerchr7:101896518..101931078hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384433
hg194433
hg184433
hg174433
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509219
Supporting Variants
SamplesNA10860
Known GenesPOLR2J2, POLR2J3
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)nssv619498
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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