A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509219



Internal ID15476717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102563030..102696680hg38UCSC Ensembl
Outerchr7:102203477..102337127hg19UCSC Ensembl
Outerchr7:101990575..102124363hg18UCSC Ensembl
Outerchr7:101797290..101931078hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3899893
hg1999893
hg1899893
hg1799893
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619498, nssv619497, nssv620889, nssv619496
SamplesNA15510, NA10860
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)nsv509219
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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