A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510960



Internal ID15826982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56191748..56390187hg38UCSC Ensembl
Outerchr7:56259441..56457880hg19UCSC Ensembl
Outerchr7:56226935..56425374hg18UCSC Ensembl
Outerchr7:56033650..56232089hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38198440
hg19198440
hg18198440
hg17198440
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622381
SamplesNA10860
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)nsv510960
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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